methylmalonic acid has been researched along with Phenylketonurias in 13 studies
Methylmalonic Acid: A malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA.
methylmalonic acid : A dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group.
Phenylketonurias: A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
| Excerpt | Relevance | Reference |
|---|---|---|
| " When the present method was applied to infant urine specimens from normal controls and patients with inherited metabolic diseases such as phenylketonuria, maple syrup urine disease, methylmalonic aciduria or isovaleric aciduria, each I pattern of bar graph more distinctly displayed quantitative abundances of urinary AAs and CAs in qualitative I scale, thus allowing graphic discrimination between normal and abnormal states." | 3.73 | Simultaneous retention index analysis of urinary amino acids and carboxylic acids for graphic recognition of abnormal state. ( Kim, KR; Lee, HJ; Paik, MJ, 2005) |
| " We have studied 27 patients of age from 3 months to 3 years: PKU -- 15 cases; homocystinuria -- 4; hyper-prolinemia -- 1; methylmalonic acidemia -- 5 and combined disorders -- 2." | 3.73 | [Peculiarities of epileptic syndrome in children with metabolic disorders of nervous system]. ( Geladze, NM; Khachapuridze, NS; Mindadze, AB; Pulariani, TD, 2005) |
| "Low-dose continuous infusions of [2H5]phenylalanine, [1-13C]propionate, and [1-13C]leucine were used to quantitate phenylalanine hydroxylation in phenylketonuria (PKU, four subjects), propionate oxidation in methylmalonic acidaemia (MMA, four subjects), and propionic acidaemia (PA, four subjects) and leucine oxidation in maple syrup urine disease (MSUD, four subjects)." | 3.68 | In vivo enzyme activity in inborn errors of metabolism. ( Halliday, D; Leonard, JV; Thompson, GN; Walter, JH, 1990) |
| "However, although 24." | 1.56 | Functional vitamin B12 deficiency in phenylketonuria patients and healthy controls: An evaluation with combined indicator of vitamin B12 status as a biochemical index. ( Akış, M; Arslan, N; Işık, İ; İşlekel, H; Kant, M; Kısa, PT; Köse, E, 2020) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 6 (46.15) | 18.7374 |
| 1990's | 3 (23.08) | 18.2507 |
| 2000's | 2 (15.38) | 29.6817 |
| 2010's | 1 (7.69) | 24.3611 |
| 2020's | 1 (7.69) | 2.80 |
| Authors | Studies |
|---|---|
| Akış, M | 1 |
| Kant, M | 1 |
| Işık, İ | 1 |
| Kısa, PT | 1 |
| Köse, E | 1 |
| Arslan, N | 1 |
| İşlekel, H | 1 |
| Vugteveen, I | 1 |
| Hoeksma, M | 1 |
| Monsen, AL | 1 |
| Fokkema, MR | 1 |
| Reijngoud, DJ | 1 |
| van Rijn, M | 1 |
| van Spronsen, FJ | 1 |
| Paik, MJ | 1 |
| Lee, HJ | 1 |
| Kim, KR | 1 |
| Pulariani, TD | 1 |
| Geladze, NM | 1 |
| Khachapuridze, NS | 1 |
| Mindadze, AB | 1 |
| Hou, JW | 1 |
| Wang, TR | 1 |
| Kajita, M | 1 |
| Niwa, T | 1 |
| Watanabe, K | 1 |
| Snyderman, SE | 1 |
| Schlesinger, P | 1 |
| Grimes, A | 1 |
| Hammond, J | 1 |
| Broquist, HP | 1 |
| Woolf, LI | 1 |
| Thompson, GN | 1 |
| Walter, JH | 1 |
| Leonard, JV | 1 |
| Halliday, D | 1 |
| Kroll, S | 2 |
| Zebisch, P | 2 |
| Toussaint, W | 2 |
3 reviews available for methylmalonic acid and Phenylketonurias
| Article | Year |
|---|---|
The dietary therapy of inherited metabolic disease.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Child; C | 1975 |
Amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Biological Transport, Active; Carnitine; | 1976 |
The dietary treatment of inborn errors of metabolism.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Anemia, Megaloblastic; Child; Female; Folic Acid; | 1976 |
10 other studies available for methylmalonic acid and Phenylketonurias
| Article | Year |
|---|---|
Functional vitamin B12 deficiency in phenylketonuria patients and healthy controls: An evaluation with combined indicator of vitamin B12 status as a biochemical index.
Topics: Adolescent; Biomarkers; Case-Control Studies; Child; Child, Preschool; Female; Folic Acid; Homocyste | 2020 |
Serum vitamin B12 concentrations within reference values do not exclude functional vitamin B12 deficiency in PKU patients of various ages.
Topics: Adolescent; Adult; Age Factors; Child; Child, Preschool; Female; Homocysteine; Humans; Infant; Male; | 2011 |
Simultaneous retention index analysis of urinary amino acids and carboxylic acids for graphic recognition of abnormal state.
Topics: Acetamides; Amino Acids; Carboxylic Acids; Child; Child, Preschool; Chromatography, Gas; Fluoroaceta | 2005 |
[Peculiarities of epileptic syndrome in children with metabolic disorders of nervous system].
Topics: Brain; Child, Preschool; Electroencephalography; Epilepsy; Homocystinuria; Humans; Infant; Intellect | 2005 |
Methylmalonic aciduria and urolithiasis in a Chinese boy with untreated phenylketonuria.
Topics: Child, Preschool; Humans; Male; Methylmalonic Acid; Phenylalanine; Phenylketonurias; Urinary Calculi | 1995 |
Analysis of urinary organic acids by liquid chromatography-atmospheric pressure chemical ionization mass spectrometry.
Topics: Acids; Adolescent; Adult; Atmospheric Pressure; Benzoates; Child; Chromatography, Liquid; Female; Hu | 1993 |
Fast blue salt B can detect phenylketonuria and tyrosinaemia in addition to methylmalonic acidaemia.
Topics: Coloring Agents; Diazonium Compounds; Humans; Malonates; Methylmalonic Acid; Phenylketonurias; Stain | 1979 |
In vivo enzyme activity in inborn errors of metabolism.
Topics: Adult; Bicarbonates; Carbon Isotopes; Child; Child, Preschool; Deuterium; Female; Humans; Hydroxylat | 1990 |
[Hereditary amino acid metabolism disorders. Indications for early diagnosis].
Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cystathionine; | 1972 |
[Diagnosis of inborn amino acid metabolism errors. Important symptoms and laboratory methods].
Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Clinical Labora | 1972 |