vitamin-b-12 and Phenylketonurias

The literature regarding the vitamin B(12) status of patients with phenylketonuria was reviewed. Adequate amounts of B(12) are provided in products used in dietary treatment; however, a number of case reports and cohort studies document deficiency in those who have discontinued taking amino acid, mineral and vitamin supplements but who continue to eat only very limited amounts of natural protein. Symptoms and signs of B(12) deficiency are variable but severe deficiency may cause serious neurological disease. Nitrous oxide anaesthesia is a particular risk. It is recommended that plasma total homocysteine and plasma or urinary methylmalonate should be routinely measured, as they are more sensitive markers of deficiency than serum B(12) concentrations. Functional B(12) deficiency can occur in the presence of a normal B(12) concentration.

Topics: Humans; Nervous System Diseases; Nitrous Oxide; Phenylketonurias; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Anemia, Megaloblastic; Child; Female; Folic Acid; Galactosemias; Glutamate Decarboxylase; Homocystinuria; Humans; Infant; Infant, Newborn; Lactose Intolerance; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methylmalonic Acid; Phenylketonurias; Pregnancy; Vitamin B 12

Topics: Adolescent; Adult; Anemia, Hemolytic; Anemia, Macrocytic; Anemia, Megaloblastic; Anemia, Pernicious; Biological Transport; Bone Marrow; Bone Marrow Cells; Child; Child, Preschool; Female; Folic Acid; Folic Acid Deficiency; Homocystinuria; Humans; Infant; Intrinsic Factor; Malabsorption Syndromes; Male; Metabolism, Inborn Errors; Methionine; Methionine Adenosyltransferase; Orotic Acid; Phenylketonurias; Tetrahydrofolate Dehydrogenase; Transcobalamins; Vitamin B 12

Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Adolescent; Adult; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Child; Female; Folic Acid; Formates; Glutamates; Glycine; Humans; Hydrolases; Imines; Infant; Malabsorption Syndromes; Male; Metabolism, Inborn Errors; Methionine Adenosyltransferase; Methylenetetrahydrofolate Dehydrogenase (NADP); Phenylketonurias; Tetrahydrofolate Dehydrogenase; Tetrahydrofolates; Transferases; Vitamin B 12

It was reported that the levels of tetrahydrobiopterin (BH4) are reduced in schizophrenia. However, mechanisms of BH4 deficiency in schizophrenia had not been studied precisely.. the search of the association between BH4 deficiency in schizophrenia and a range of biochemical and clinical parameters for the evaluation of the possible mechanisms of BH4 loss and its role in the development of the symptoms.. 93 patients with schizophrenia and 60 healthy volunteers were randomly selected and evaluated with a biochemical examination of BH4, folate, cobalamin (B12), homocysteine, C-reactive protein (CRP), reduced glutathione (GSH) levels in the blood serum.Patients underwent standardized psychopathological examination.. In patients, the levels of BH4 and folate were lower (p = 0.001 and p = 0.054, respectively), and the levels of homocysteine were higher (p = 0.012) compared to the control group. BH4 levels directly moderately correlated with folate (ρ = 0.43; p = 0.0029) and B12 levels (ρ = 0.43; p = 0.0020) and inversely moderately correlated with homocysteine levels (ρ = -0.54; p = 0.00015) in patients. Cluster analysis identified schizophrenia biotype characterized by a deficiency of BH4, folate, B12, and hyperhomocysteinemia. The clinical characteristics of this biotype were not specific. CRP and GSH were higher in patients compared to controls, but their association with serum BH4 was not confirmed.

Topics: C-Reactive Protein; Case-Control Studies; Folic Acid; Homocysteine; Humans; Phenylketonurias; Schizophrenia; Vitamin B 12

Topics: Adult; Child; Choline; Female; Folic Acid; Humans; Methionine; Nutrition Surveys; Phenylalanine; Phenylketonurias; Pregnancy; Vitamin B 12; Vitamins

The goal of this study was to assess the anthropometric and biochemical parameters of children and adolescents with phenylketonuria (PKU).. The participants in this cross-sectional study ranged in age from four to 18 years old. Biochemical markers such as vitamin B12, folic acid, iron, ferritin, calcium, 25-hydroxy vitamin D3, zinc, plasma phenylalanine (Phe) and tyrosine (Tyr) levels in blood were evaluated, as well as demographics and anthropometric measurements. A three-day dietary recall questionnaire was completed by all individuals.. 80% (64) of the 80 patients (42 females, 52.5%) had typical PKU. Consanguineous marriages were found in 57.5% (46) of the patients' parents. According to the height for age index, 17.5% of the study group (n = 14) were short or very short. According to age-related weight and body mass index (BMI), 37.5% (n = 30) and 43.8% (n = 35) of people are obese or overweight, respectively. Biochemical tests revealed increased vitamin B12 levels and 25-hydroxy vitamin D3 deficiency in 35% (n = 28) of the patients, insufficient folic acid in 12.5% (n = 10), and elevated phenylalanine levels in 70.3% (n = 45) of children under 12 years old, and adolescents 62.5% (n = 10). A high Phe intake (OR = 4.44, CI %95 = 1.27-15.57) is a risk factor for obesity and overweight.. Patients with PKU had a high rate of overweight and obesity. PKU patients who are overweight or obese do not differ from normal-weight patients in terms of dietary intake or laboratory findings (except for serum iron levels). One-third of patients with phenylketonuria were vitamin D deficient and had a BMI/A index of overweight/obese. It is recommended to use special medical food to help solve energy and nutrient deficiencies.

Topics: Adolescent; Child; Child, Preschool; Cholecalciferol; Cross-Sectional Studies; Female; Folic Acid; Humans; Iron; Nutritional Status; Obesity; Overweight; Phenylalanine; Phenylketonurias; Vitamin B 12; Vitamin D Deficiency

Vitamin B12 deficiency frequently appears in phenylketonuria patients having a diet poor in natural protein. The aims of this study were to evaluate vitamin B12 status in phenylketonuria patients by using combined indicator of vitamin B12 status (cB12) as well as methylmalonic acid and homocysteine, more specific and sensitive markers, in comparison with healthy controls.. Fifty-three children and adolescents with phenylketonuria under dietary treatment and 30 healthy controls were assessed cross-sectionally. Serum vitamin B12 and folate concentrations were analysed by chemiluminescence immunoassay. Plasma methylmalonic acid and total homocysteine concentrations were measured by liquid chromatography-tandem mass spectrometry and liquid chromatography, respectively. cB12 was calculated by using a formula involving blood parameters.. Methylmalonic acid and folate concentrations in phenylketonuria group were higher compared with controls. Methylmalonic acid concentrations were high in 56.5% of the patients and 26.7% of the controls with normal vitamin B12 concentrations. Based on cB12, a significant difference within the normal values was detected between the groups. However, although 24.5% of phenylketonuria patients and 13.3% of controls had decreased vitamin B12 status according to cB12, there was no significant difference.. Children and adolescents with phenylketonuria having a strict diet can be at risk of functional vitamin B12 deficiency. This deficiency can be accurately determined by measuring methylmalonic acid concentrations. Calculation of cB12 as a biochemical index did not provide additional information compared with the measurement of methylmalonic acid alone, but may be helpful for classification of some patients with increased methylmalonic acid as having adequate vitamin B12 status.

Topics: Adolescent; Biomarkers; Case-Control Studies; Child; Child, Preschool; Female; Folic Acid; Homocysteine; Humans; Male; Methylmalonic Acid; Phenylketonurias; Vitamin B 12; Vitamin B 12 Deficiency

Phenylketonuria (PKU) is a metabolic disorder, which manifests a progressive irreversible neurological impairment during infancy and childhood. Hyperhomocysteinemia also showed that it might be involved in pathophysiology of many neuropsychiatric disorders. The late-onset clinical manifestations of these 2 diseases have not been reported elsewhere. We speculated that the late-onset PKU is caused by 2 kinds of metabolic dysfunction synergistically, especially a short period of irregular diet directly caused clinical symptoms.. A 21-year old Asian male patient demonstrated subacute leukodystrophy and visual-spatial disorders of late onset in adulthood.. Phenylketonuria combined with homocysteinmia, who presented with heterozygous mutations in gene encoding PAH p.G247R (c.739G>C) and p.Y204C (c.611A>G), along with homozygous mutation of gene encoding MTHFR c.677C>T.. The patient was treated with cobalamine (500 μg/day), vitamin B6 (30 mg/day), folate (5 mg/day) and encouraged to follow a protein-restricted diet.. Visual disorientation and cognitive function showed improvement. Head MR showed similar resolution with the original lesion. Serum homocysteine and folate analysis were normal with decreased phenylalanine level.. This case suggests that neurological involvement of progressive nervous system dysfunction could be caused by more than one kind of inherited metabolic disturbances, and each one can induce or deteriorate the manifestations of another metabolic disorders.

Topics: Folic Acid; Humans; Hyperhomocysteinemia; Leukoencephalopathies; Male; Mutation; Phenylketonurias; Vision Disorders; Vitamin B 12; Vitamin B 6; Vitamin B Complex; Young Adult

Phenylketonuria's (PKU) treatment based on low natural protein diet may affect homocysteine (Hcys) metabolic pathway. Hcys alteration may be related to the methylation of arginine to asymmetric dimethylarginine (ADMA) and symmetric dimethylarginine (SDMA), which both modify nitric oxide production. The aim of this work is to evaluate the status of Hcys formation methylation cycle and ADMA and SDMA levels in patients with PKU in order to establish a potential relationship.Forty-two early diagnosed PKU patients under dietary treatment and good adherence to their diets were enrolled in this cross-sectional study. Their nutritional and biochemical profile, as well as Hcys synthesis status, ADMA and SDMA levels were analyzed and compared with a control group of 40 healthy volunteers. ADMA and SDMA were determined by high-performance liquid chromatography system coupled to triple quadrupole mass spectrometer.In this study, 23 classic PKU, 16 moderate PKU, and 3 mild HPA were enrolled. The median age was 10 years old. Median ADMA, SDMA, and Hcys concentration levels (5.1 μM [2.3-25.7], 0.35 μM [0.18-0.57], 0.43 μM [0.26-0.61], respectively) were lower in patients with PKU (P < .001 for ADMA and SDMA) whereas vitamin B12 and folate levels (616 pg/mL [218-1943] and 21 ng/mL [5-51], respectively) were higher comparing with controls. Statistically significant correlations were found between ADMA, and Phe (r = -0.504, P = .001) and Hcys (r = -0.458, P = .037) levels. Several nutrition biomarkers, such as prealbumin, 25-hydroxy vitamin D, selenium, and zinc, were below the normal range.Our study suggests that patients with PKU suffer from poor methylation capacity. Restriction of natural proteins in addition to high intake of vitamin B12 and folic acid supplementation in the dietary products, produce an impairment of methylation cycle that leads to low Hcys and ADMA levels. As a result, methylated compounds compete for methyl groups, and there is an impairment of methylation cycle due to low Hcys levels, which is related to the lack of protein quality, despite of elevated concentrations of cofactors.

Topics: Arginine; Biomarkers; Child; Chromatography, High Pressure Liquid; Creatinine; Cross-Sectional Studies; Female; Folic Acid; Homocysteine; Humans; Male; Mass Spectrometry; Methylation; Patient Compliance; Phenylketonurias; Severity of Illness Index; Vitamin B 12

Adult phenylketonuria (PKU) patients often reduce their intake of amino acid mixture (AAM) to less than the prescribed amounts. Effects of reduced AAM intake on nutrient supply were evaluated.. Nutrient intake was calculated in 20 adult PKU patients based on a structured food record and complemented by laboratory assessment of nutritional status. Patients were classified into 2 groups, (A) regular AAM intake, or (B) AAM intake below calculated requirements.. Group B consumed a higher proportion of natural protein (60 ± 23 vs. 33 ± 12%, p = 0.002); however, the total protein intake was below the recommended amounts in 60% of patients in group B versus 7% in group A (p = 0.03). Fat intake was higher in group B (39 ± 9% of energy vs. 31 ± 6%, p = 0.03), mainly from saturated fats. Selenium, folate, and vitamin B12 intake was below the recommended intake in group B. However, serum concentrations of these analytes remained within the normal range in both groups, although vitamin B12 levels were lower in group B. Plasma tyrosine correlated with AAM intake, and hydroxyproline correlated with the amount of natural protein consumed.. Relaxed AAM intake resulted in insufficient nutrient supply, despite a compensatory increase in consumption of natural protein. Care needs to be taken to ensure adequate nutrition in adults with PKU.

Topics: Adolescent; Adult; Amino Acids; Cross-Sectional Studies; Diet; Dietary Fats; Dietary Proteins; Female; Folic Acid; Humans; Male; Middle Aged; Nutrients; Nutritional Status; Phenylketonurias; Prospective Studies; Selenium; Vitamin B 12; Young Adult

The mainstay of treating patients with phenylketonuria (PKU) is based on a Phe-restricted diet, restrictive in natural protein combined with Phe-free L-amino acid supplements and low protein foods. This PKU diet seems to reduce atherogenesis and confer protection against cardiovascular diseases but the results from the few published studies have been inconclusive. The aim of our study was to evaluate the relationship between the lipid profile and several treatment-related risk factors in patients with hyperphenylalaninaemia (HPA) in order to optimize their monitoring.. We conducted a cross-sectional multicentre study. A total of 141 patients with HPA were classified according to age, phenotype, type of treatment and dietary adherence. Annual median blood phenylalanine (Phe) levels, Phe tolerance, anthropometric measurements, blood pressure (BP) and biochemical parameters [(triglycerides, total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low density lipoprotein-cholesterol (LDL-C), apolipoprotein A (ApoA), apolipoprotein B (ApoB), vitamin B12, total homocysteine (tHcy), Methionine (Met), high sensitivity C-Reactive Protein (hsCRP)] were collected for each patient.. Plasma TC levels were lower in patients with PKU than in the mild-HPA group (150 ± 31 vs. 164 ± 22 mg/dL), and there was a weak inverse correlation between plasma TC and Phe levels. HDL-C, LDL-C, ApoA and ApoB levels were lower in the PKU group than in mild-HPA. Patients with PKU had higher systolic BP than the mild-HPA group and there was found a quadratic correlation between median Phe levels and systolic BP (p = 6.42e(-5)) and a linear correlation between median Phe levels and diastolic BP (p = 5.65e(-4)). In overweight or obese PKU patients (24.11 %), biochemical parameters such as TC, triglycerides, LDL-C, tHcy, hsCRP and BP were higher. By contrast, HDL-C was lower in these patients.. Our data show a direct correlation between lipid profile parameters and good adherence to the diet in PKU patients. However, lipid profile in overweight or obese patients displayed an atherogenic profile, in addition to higher hsCRP concentrations and BP. Our study contributes to a better understanding of the relationship between phenotype and treatment in patients with HPA, which could be useful in improving follow-up strategies and clinical outcome.. Research Ethics Committee of Santiago-Lugo 2015/393. Registered 22 September 2015, retrospectively registered.

Topics: Apolipoproteins A; Apolipoproteins B; Blood Pressure; C-Reactive Protein; Cholesterol; Cholesterol, HDL; Cholesterol, LDL; Coronary Disease; Cross-Sectional Studies; Female; Homocysteine; Humans; Lipids; Male; Methionine; Phenylketonurias; Risk Factors; Triglycerides; Vitamin B 12

Homocysteine (Hcy) and in particular methylmalonic acid (MMA) are considered reliable parameters for vitamin B(12) status in healthy individuals. Phenylketonuria (PKU) patients are at risk for functional vitamin B(12) deficiency based on their diet.. The aim of this study was to investigate the prevalence of functional vitamin B(12) deficiency in continuously treated PKU patients and the association of parameters of vitamin B(12) and metabolic control.. In 75 continuously treated PKU patients of 1-37 years of age, serum vitamin B(12) concentrations, plasma Hcy, MMA, and phenylalanine concentrations were studied.. Eight patients had vitamin B(12) concentrations below normal. Out of these eight patients, two had elevated MMA and/or Hcy concentrations. Ten other patients with normal vitamin B(12) concentrations had elevated concentrations of MMA and/or Hcy.. A vitamin B(12) concentration within the reference range does not automatically imply a sufficient vitamin B(12) status. We recommend measuring serum MMA, or alternatively plasma Hcy, yearly in all PKU patients to diagnose functional vitamin B(12) deficiency.

Topics: Adolescent; Adult; Age Factors; Child; Child, Preschool; Female; Homocysteine; Humans; Infant; Male; Methylmalonic Acid; Phenylketonurias; Reference Values; Retrospective Studies; Vitamin B 12; Vitamin B 12 Deficiency; Young Adult

In phenylketonuria (PKU), protein substitute is an essential part of dietary treatment. Short-term studies have demonstrated that liquid protein substitutes (LPS) are efficacious, and improve compliance in teenagers and adults with PKU, although there are no data available to demonstrate that their effectiveness is sustained over time. The present retrospective study aimed to evaluate the long-term efficacy of ready-to-drink protein substitute in a group of people with PKU.. Thirty-four patients (17 females and 17 males, median age 14.9 years, range 7.2-53.8 years) with PKU on dietary management were recruited from Birmingham Children's Hospital. All patients who were taking a LPS for a median of 2.4 years (range 6 months to 4.1 years), had their plasma phenylalanine concentrations, anthropometric and nutritional biochemical markers reviewed, both before and when taking the LPS.. There was a significant improvement in median plasma phenylalanine (P < 0.05), vitamin B(12) (P < 0.01), calcium (P < 0.05) and albumin (P < 0.05) concentrations in subjects (n = 13) aged >18 years when taking the LPS. In the children aged 7-18 years (n = 21), median plasma phenylalanine concentrations were maintained on LPS. Their plasma selenium concentrations (P < 0.05) deteriorated, but calcium (P < 0.05), albumin (P < 0.01), haemoglobin (P < 0.01) and haematocrit (P < 0.01) significantly improved.. This retrospective review suggested that, in adult patients, the long-term use of LPS is associated with better compliance by lowering blood phenylalanine and improving nutritional biochemical markers.

Topics: Adolescent; Adult; Biomarkers; Calcium; Child; Dietary Proteins; Female; Food, Formulated; Hematocrit; Hemoglobins; Humans; Male; Middle Aged; Phenylalanine; Phenylketonurias; Retrospective Studies; Selenium; Serum Albumin; Treatment Outcome; Vitamin B 12; Young Adult

Phenylketonuria (PKU) is a disorder characterized by several biochemical mechanisms which may impair the brain functions in PKU, leading to neurological problems. Our case report concerns a 19 year-old man with phenylketonuria who was evaluated with the onset of stiffness following the abandonment of the phenylalanine-restricted diet. He was assessed with grade-4 spasticity according to Modified Aschworth scale. The deep tendon reflexes had increased and the plantar reflexes were positive. Knee extensions were limited due to the shortening of the hamstring muscles. Serum phenylalanine concentration was elevated and plasma vitamin B12 level was low. Cranial magnetic resonance imaging scan revealed demyelinization area in periventricular deep white matter. We administered a phenylalanine-restricted diet and a rehabilitation program. Following the treatment, spasticity was reduced to grade-1 and patient could walk without aid. This case shows that, the combination of diet, medication and a rehabilitation program is an effective treatment model on adult PKU with upper motor neuron involvement.

Topics: Botulinum Toxins, Type A; Combined Modality Therapy; Cryotherapy; Humans; Male; Motor Neuron Disease; Muscle Spasticity; Phenylalanine; Phenylketonurias; Vitamin B 12; Young Adult

Hyperhomocysteinemia has occasionally been reported in patients with phenylketonuria (PKU) and B-vitamin deficiency. In our study total homocysteine (tHcy) and B-vitamins were measured in treated PKU patients and healthy controls. In the patients, dietary parameters and genetic polymorphisms affecting the Hcy pathway were investigated to identify parameters modulating tHcy. A case control study including 37 PKU patients and 63 healthy controls was conducted. t-Tests for independent samples were used to test between groups. Multiple regressions with tHcy as dependent variable were calculated. Hardy-Weinberg expectations were tested against the observed distribution of genotypes applying the Chi-square goodness-of-fit method. THcy concentrations were not significantly different (p=0.059) while folate and cobalamin (Cbl) concentrations were significantly higher in PKU patients compared to controls. However, 29.7% of patients had tHcy concentrations >97th centile. THcy did not vary with age nor correlate with folate and Cbl concentrations probably due to high saturatory levels. The presence of genetic polymorphisms had no impact on tHcy. In conclusion, in PKU patients treated with amino acid mixtures enriched with B-vitamins, tHcy is not significantly higher than in healthy controls, but tHcy concentrations exceed the 97th centile in about one third of patients. Even higher B-vitamin saturation may be required to further decrease tHcy concentrations and factors generally influencing tHcy such as betaine are to be investigated in PKU patients in the future.

Topics: Adolescent; Adult; Body Mass Index; Child; Child, Preschool; Female; Homocysteine; Humans; Hyperhomocysteinemia; Male; Phenylketonurias; Polymorphism, Genetic; Vitamin B 12; Vitamin B 6; Vitamin B Deficiency

Phenylketonuria (PKU) is caused by an autosomal recessive deficiency of the enzyme phelnylalanine hydroxylase leading to a failure to convert phenylalanine to tyrosine. To avoid irreversible neurological damage because of increased phenylalanine, treatment is instituted rapidly after birth. We examined 31 adult PKU patients living on a less protein-restricted diet. Theoretically, these PKU patients had an increased risk of developing vitamin B(12) and B(6) deficiency because of a limited intake of animal products. Besides laboratory tests (n = 31) we obtained clinical information (n = 30) and detailed information on food consumption (n = 28). Three-quarters of the patients had early biochemical signs of vitamin B(12) deficiency. In spite of a normal folate status, 9 (29%) had a plasma homocysteine above 12 micromol/L. In accord with these findings, the food questionnaires indicated that 11 (39%) patients received less than the recommended daily vitamin B(12), and 20 (71%) received less vitamin B(6) than recommended. A significant association was found between reduced vitamin B(12) intake and both reduced serum cobalamins (p = 0.04) and reduced serum transcobalamin saturation (p = 0.03). Eleven patients took a vitamin pill daily, and these patients had a significantly lower plasma homocysteine compared to the rest. The present study suggests that adult PKU patients were at increased risk of developing vitamin B(12) deficiency, and their intake of vitamin B(6) was below the recommended daily intake. In conclusion PKU patients need continuing dietary guidance throughout adult life, and considering the risks, costs and potential benefits, daily vitamin supplementation seems justified in these patients.

Topics: Adolescent; Adult; Diet, Protein-Restricted; Female; Folic Acid; Homocysteine; Humans; Male; Phenylketonurias; Transcobalamins; Vitamin B 12; Vitamin B 12 Deficiency; Vitamin B 6; Vitamin B 6 Deficiency

Treatment of phenylketonuria (PKU) patients consists of a phenylalanine-restricted diet supplemented with a tyrosine-, vitamin- and oligoelement-enriched amino-acid mixture. Vitamins and oligoelements may be deficient when compliance with the supplemented special formula is poor. Plasma thiol concentrations (especially homocysteine) depend mainly on B-vitamin intake. Our aim was to evaluate the plasma thiol concentrations (homocysteine, cysteine and glutathione) and their determinants (methionine, cobalamin and folate) in PKU patients under dietary treatment compared with age-matched controls.. Cross-sectional study performed in a tertiary care Hospital.. PKU (42) patients under dietary treatment compared with 42 age-matched controls.. Plasma total homocysteine, cysteine and glutathione were analyzed by HPLC with fluorescence detection. Plasma phenylalanine and methionine were analyzed by ion exchange chromatography. Serum folate and cobalamin were analyzed by radioimmunoassay procedures.. Total homocysteine concentrations were significantly lower in the PKU patients compared with the control group (Students t-test; P<0.0001). Serum folate and cobalamin were significantly higher in the PKU group (t-Student; P<0.0001) compared with controls. A significantly negative correlation was observed between total homocysteine and folate (r=-0.378; P=0.016), and between cobalamin and phenylalanine concentrations (r=-0.367; P=0.022) in the PKU group.. Plasma total homocysteine values are lower in the PKU group than in the controls, probably because of high folate values. High phenylalanine values, an indicator of poor dietary compliance, are negatively associated with cobalamin, which might be deficient in some cases.

Topics: Adolescent; Cross-Sectional Studies; Cysteine; Female; Folic Acid; Glutathione; Homocysteine; Humans; Male; Methionine; Phenylalanine; Phenylketonurias; Sulfhydryl Compounds; Vitamin B 12

The aim of this study was to investigate the known risk factors, such as lipids, homocysteine and endothelin, for the development of coronary artery disease (CAD) in phenylketonuria (PKU) patients, depending on their diet. The PKU patients (n = 74) were divided into two groups. Group A (n = 34; mean age 6.78 +/- 1.5 y) adhered strictly to a diet and group B (n = 40; mean age 8.0 +/- 3.2 y) did not comply with the diet. The control group comprised 50 healthy non-PKU children. All groups were evaluated for blood levels of homocysteine and vitamin B6 by high-performance liquid chromatography, vitamin B12 and folate in serum by a radioassay, lipids by a routine method, and lipoprotein(a) and endothelin-1 with an immunoassay. Homocysteine levels (28.65 +/- 3.3 micromol l(-1)) were increased in group A compared with group B (6.86 +/- 1.6 micromol l(-1)) and the controls (6.9 +/- 2.0 micromol l(-1)) (p < 0.001). Vitamin B6 (10.7 +/- 10.9 nmol l(-1)), vitamin B12 (98.5 +/- 22.3 pmol l(-1)), folate (2.35 +/- 1.3 nmol l(-1)) and lipids were decreased in group A. The other vascular risk factors, which were not dependent on diet [lipoprotein(a) and endothelin-1], did not differ among the three groups.. PKU patients on a strict diet had low vitamin B6, vitamin B12 and folate levels resulting in moderate hyperhomocysteinaemia. The evaluation of these vitamins at short intervals and their supplementation could be an early measure in the prevention of CAD.

Topics: Child; Child, Preschool; Coronary Artery Disease; Diet, Protein-Restricted; Endothelin-1; Folic Acid; Homocysteine; Humans; Lipids; Nutrition Assessment; Phenylalanine; Phenylketonurias; Risk Factors; Vitamin B 12; Vitamin B 6

To investigate whether dietary relaxation or cessation in patients with phenylketonuria (PKU) predisposes to vitamin B12 deficiency.. Patients with PKU aged 11 to 38 years underwent a neurologic examination and dietetic assessment and were divided according to their diet into 1 of 3 groups: Strict - those on a strict low phenylalanine (phe) diet with amino acid, mineral, and vitamin supplements; Relaxed - those on a total protein intake of approximately 1 g/kg/d with 50% of this from natural protein and 50% from amino acid, mineral, and vitamin supplements; Unrestricted - those on no formal protein restriction and not taking amino acid supplements. Assays of blood samples were taken for vitamin B12 and folate levels by standard assays. Results were analyzed with Student t test.. Vitamin B12 levels were significantly lower in the PKU groups on relaxed or unrestricted diets compared with the normal population (P <.0001 [unrestricted] and.0034 [relaxed]). Folate levels were significantly elevated in all PKU groups (<.0001).. Patients with PKU who are no longer under strict dietary control may be at risk from vitamin B12 deficiency. We recommend that all patients should remain under medical and dietetic supervision and in particular have their vitamin B12 status monitored.

Topics: Adolescent; Adult; Child; Folic Acid; Follow-Up Studies; Humans; Neurologic Examination; Phenylketonurias; Prospective Studies; Risk Factors; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Child; Child, Preschool; Female; Folic Acid; Humans; Infant; Male; Phenylketonurias; Reference Values; Vitamin B 12

Topics: Adolescent; Adult; Child; Female; Humans; Male; Phenylketonurias; Vitamin B 12; Vitamin B 12 Deficiency

Assessment and Evaluation of the Folacin Supply in Children with Respect to the Cobalamin- and Iron Status - 3rd Communication. On the basis of biochemical data concerning folate-, cobalamin- and iron status of healthy children (n = 165) we estimated the supply situation in 258 children with different diseases. Patients suffering from celiac disease showed in a high frequency symptoms of a "subclinical-manifest" folate deficiency. In spite of folate therapy in Crohn's disease the supply situation was as bad. The supply situation of the controls and infected children was comparable. Anticonvulsant (folate antagonists) therapy had a significant influence on the folate status demonstrated with radioimmunological technique. In contrast to these results patients suffering from phenylketonuria had exceptionally better folate values than the controls. Obviously the vitamin content of the diet products exceeds the recommendations.

Topics: Adolescent; Anticonvulsants; Celiac Disease; Child; Child, Preschool; Colitis, Ulcerative; Crohn Disease; Erythrocytes; Female; Folic Acid; Humans; Infant; Infections; Iron; Malabsorption Syndromes; Male; Phenylketonurias; Vitamin B 12

Topics: Abetalipoproteinemia; Acrodermatitis; Amino Acid Metabolism, Inborn Errors; Amino Acids; Amylases; Amyloidosis; Carbohydrate Metabolism, Inborn Errors; Copper; Cystic Fibrosis; Cystinuria; Diarrhea; Fanconi Syndrome; Fats; Folic Acid; Fructose Intolerance; Glucosidases; Hartnup Disease; Humans; Intestinal Absorption; Lactose Intolerance; Magnesium; Malabsorption Syndromes; Monosaccharides; Pancreatitis; Phenylketonurias; Rickets; Vitamin B 12

Topics: Abetalipoproteinemia; Abnormalities, Multiple; Carbohydrate Metabolism, Inborn Errors; Dermatoglyphics; Dwarfism; Dysautonomia, Familial; Dystonia Musculorum Deformans; Facial Dermatoses; Factor XI Deficiency; Familial Mediterranean Fever; Gaucher Disease; Genetic Diseases, Inborn; Genetics, Population; Glucosephosphate Dehydrogenase Deficiency; Glycogen Storage Disease; Humans; Israel; Jaundice, Chronic Idiopathic; Jews; Lipidoses; Niemann-Pick Diseases; Pentoses; Phenylketonurias; Telangiectasis; Thalassemia; Vitamin B 12

Topics: Bilirubin; Cholesterol; Clinical Enzyme Tests; Humans; Isocitrate Dehydrogenase; Liver Function Tests; Methionine; Phenylalanine; Phenylketonurias; Thymol; Transaminases; Tyrosine; Vitamin B 12