methylmalonic acid has been researched along with Acidosis in 52 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.
Acidosis: A pathologic condition of acid accumulation or depletion of base in the body. The two main types are RESPIRATORY ACIDOSIS and metabolic acidosis, due to metabolic acid build up.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Methylmalonic aciduria combined with homocystinuria (MMA-HC) is the biochemical trait of a metabolic disorder resulting from impaired conversion of dietary cobalamin (cbl, or vitamin B12) to its two metabolically active forms." | 7.76 | Increase in urinary purines and pyrimidines in patients with methylmalonic aciduria combined with homocystinuria. ( Contini, L; Corda, M; Era, B; Fais, A; Lilliu, F; Porcu, S; Traldi, P, 2010) |
| "Methylmalonic acidaemia is an inborn error of metabolism characterized by recurrent episodes of life-threatening ketoacidosis." | 7.70 | Successful pregnancy in severe methylmalonic acidaemia. ( Desnick, RJ; Eddleman, K; Gaddipati, S; Sansaricq, C; Snyderman, SE; Wasserstein, MP, 1999) |
| "We describe a case of neonatal methylmalonic acidemia with the unusual complication of severe, insulin-resistant hyperglycemia." | 7.66 | Methylmalonic acidemia with the unusual complication of severe hyperglycemia. ( Boeckx, RL; Hicks, JM, 1982) |
| "Metabolic acidosis is known to be associated with increased blood potassium and phosphorus concentrations but the influence of mineral versus nonmineral acids on these variables remains undefined." | 7.66 | Relationship between blood pH and potassium and phosphorus during acute metabolic acidosis. ( Oster, JR; Perez, GO; Vaamonde, CA, 1978) |
| "Methylmalonic aciduria combined with homocystinuria (MMA-HC) is the biochemical trait of a metabolic disorder resulting from impaired conversion of dietary cobalamin (cbl, or vitamin B12) to its two metabolically active forms." | 3.76 | Increase in urinary purines and pyrimidines in patients with methylmalonic aciduria combined with homocystinuria. ( Contini, L; Corda, M; Era, B; Fais, A; Lilliu, F; Porcu, S; Traldi, P, 2010) |
| "The aim of this study was to identify the causative genetic lesion in two apparently unrelated newborns having lethal lactic acidosis, multi-organ failure and congenital malformations including interrupted aortic arch, who exhibited mild methylmalonic aciduria, combined mitochondrial respiratory chain deficiency, and marked muscle mitochondrial DNA depletion." | 3.76 | Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch. ( Andreu, AL; Arenas, J; Arroyo, I; Bornstein, B; Gallardo, E; Garesse, R; Marti, R; Martin, MA; Martinez-Pardo, M; Merinero, B; Moran, MJ; Perez-Jurado, LA; Rivera, H; Ruiz-Sala, P; Serra-Suhe, C; Ugalde, C; Ugarte, M, 2010) |
| " The laboratory findings showed metabolic acidosis in 6 cases, hyperammonemia in 5 cases, ketonuria in 4 cases and remarkable elevation of urinary methylmalonic acid concentration in all cases." | 3.72 | [Diagnosis and treatment of methylmalonic acidemia in 14 cases]. ( Fang, F; Guo, W; Jin, H; Jin, Z; Wu, HS; Xiao, J; Zhang, CH; Zhu, C; Zou, LP, 2004) |
| "Methylmalonic acidaemia is an inborn error of metabolism characterized by recurrent episodes of life-threatening ketoacidosis." | 3.70 | Successful pregnancy in severe methylmalonic acidaemia. ( Desnick, RJ; Eddleman, K; Gaddipati, S; Sansaricq, C; Snyderman, SE; Wasserstein, MP, 1999) |
| "Reexamination of serum from a child thought to have died of ethylene glycol poisoning showed that the child had methylmalonic acidemia." | 3.68 | Misidentification of propionic acid as ethylene glycol in a patient with methylmalonic acidemia. ( Hoffmann, JW; Lynch, RE; Shoemaker, JD; Sly, WS, 1992) |
| "The tendency towards metabolic acidosis developing during simple infections lead to the detection of hyperglycinemia which was shown to be caused by the rare inborn error of metabolism, which was shown to be a methylmalonic acidemia, in identical twins." | 3.66 | [Vitamin-B12-dependent methylmalonic acidemia in twins]. ( Hansen, HG; Heuer, R; Karsten, J; Kneer, J; Wulff, UC, 1983) |
| "We describe a case of neonatal methylmalonic acidemia with the unusual complication of severe, insulin-resistant hyperglycemia." | 3.66 | Methylmalonic acidemia with the unusual complication of severe hyperglycemia. ( Boeckx, RL; Hicks, JM, 1982) |
| " The patients suffered from distinct variants of maple syrup urine disease, propionic acidaemia, methylmalonic acidaemia, lactic acidosis and hyperglycinuria." | 3.66 | [Human fibroblast bank for studying amino acid disorders and organic acidemias]. ( del Valle, JA; Merinero, B; Pérez-Cerdá, C; Ugarte, M, 1982) |
| "A patient presenting with severe metabolic acidosis accompanied by hyperglycinemia, hyperuricemia, hypoglycemia and hypertammonemia is described." | 3.66 | Methylmalonic acidemia. ( Akaboshi, I; Hattori, S; Matsuda, I; Nagata, N; Oka, Y; Shinozuka, S; Terashima, T; Yamamoto, J, 1978) |
| "Metabolic acidosis is known to be associated with increased blood potassium and phosphorus concentrations but the influence of mineral versus nonmineral acids on these variables remains undefined." | 3.66 | Relationship between blood pH and potassium and phosphorus during acute metabolic acidosis. ( Oster, JR; Perez, GO; Vaamonde, CA, 1978) |
| "Investigation of a neonate presenting with a metabolic acidosis, vomiting and an apnoeic attack revealed abnormal urinary excretion of methylmalonic acid (MMA) associated with a low serum vitamin B12." | 3.65 | Neonatal acidosis associated with transient methylmalonicaciduria and vitamin B12 deficiency. ( Ireland, JT; Williams, AJ, 1977) |
| "Severe falciparum malaria is commonly complicated by metabolic acidosis." | 1.42 | The role of previously unmeasured organic acids in the pathogenesis of severe malaria. ( Charunwatthana, P; Chotinavich, K; Day, NP; Dondorp, AM; Douthwaite, S; Faiz, MA; Ghose, A; Hassan, MM; Herdman, MT; Hossain, MA; Kingston, HW; Leepipatpiboon, N; Leopold, SJ; Maude, RJ; Mishra, S; Mohanty, S; Plewes, K; Silamut, K; Sriboonvorakul, N; Tarning, J; White, NJ; Woodrow, CJ, 2015) |
| "The methylmalonic aciduria is an organic acidemia, inherited as autosomic recessive trait, caused by a deficiency of the methylmalonyl-CoA mutase, or by defects in the biosynthesis of the cofactor adenosylcobalamin." | 1.34 | [Diagnosis and treatment of methylmalonic aciduria: a case report]. ( Domínguez, CL; Mahfoud, A; Merinero, B; Pérez, A; Pérez, B; Rizzo, C, 2007) |
| "Methylmalonic acidemia (MMA) is an inborn disorder of amino acid metabolism, often presenting with neurological symptoms." | 1.33 | Magnetic resonance imaging and diffusion-weighted imaging in methylmalonic acidemia. ( Ayata, A; Baykal, B; Koroglu, M; Oktem, F; Oral, B; Oyar, O; Yeşildağ, A; Yildiz, H, 2005) |
| "Methylmalonic acidemia is a rare disease, and its neuropathology in childhood has been rarely reported." | 1.33 | Neuropathology of methylmalonic acidemia in a child. ( Hirose, S; Iwasaki, H; Kanaumi, T; Kodama, T; Takashima, S, 2006) |
| "Methylmalonic acid was found in high concentration in both serum and urine, although the concentration of serum vitamin B12 was normal." | 1.26 | Methylmalonic acidemia controlled with oral administration of vitamin B12. ( Carson, RA; Gordon, BA, 1976) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 28 (53.85) | 18.7374 |
| 1990's | 9 (17.31) | 18.2507 |
| 2000's | 9 (17.31) | 29.6817 |
| 2010's | 6 (11.54) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Han, L | 2 |
| Wu, S | 1 |
| Ye, J | 2 |
| Qiu, W | 2 |
| Zhang, H | 2 |
| Gao, X | 1 |
| Wang, Y | 1 |
| Gong, Z | 1 |
| Jin, J | 1 |
| Gu, X | 2 |
| Herdman, MT | 1 |
| Sriboonvorakul, N | 1 |
| Leopold, SJ | 1 |
| Douthwaite, S | 1 |
| Mohanty, S | 1 |
| Hassan, MM | 1 |
| Maude, RJ | 1 |
| Kingston, HW | 1 |
| Plewes, K | 1 |
| Charunwatthana, P | 1 |
| Silamut, K | 1 |
| Woodrow, CJ | 1 |
| Ghose, A | 1 |
| Chotinavich, K | 1 |
| Hossain, MA | 1 |
| Faiz, MA | 1 |
| Mishra, S | 1 |
| Leepipatpiboon, N | 1 |
| White, NJ | 1 |
| Day, NP | 1 |
| Tarning, J | 1 |
| Dondorp, AM | 1 |
| Liu, H | 1 |
| Tan, D | 1 |
| Sentongo, TA | 1 |
| Azzam, R | 1 |
| Charrow, J | 1 |
| Porcu, S | 1 |
| Corda, M | 1 |
| Lilliu, F | 1 |
| Contini, L | 1 |
| Era, B | 1 |
| Traldi, P | 1 |
| Fais, A | 1 |
| Rivera, H | 1 |
| Merinero, B | 3 |
| Martinez-Pardo, M | 1 |
| Arroyo, I | 1 |
| Ruiz-Sala, P | 1 |
| Bornstein, B | 1 |
| Serra-Suhe, C | 1 |
| Gallardo, E | 1 |
| Marti, R | 1 |
| Moran, MJ | 1 |
| Ugalde, C | 1 |
| Perez-Jurado, LA | 1 |
| Andreu, AL | 1 |
| Garesse, R | 1 |
| Ugarte, M | 2 |
| Arenas, J | 1 |
| Martin, MA | 1 |
| Su, YJ | 1 |
| Chen, JB | 1 |
| Chen, TC | 1 |
| Chuang, FR | 1 |
| Al-Owain, M | 1 |
| Freehauf, C | 1 |
| Bernstein, L | 1 |
| Kappy, M | 1 |
| Thomas, J | 1 |
| Jin, H | 1 |
| Zou, LP | 1 |
| Zhang, CH | 1 |
| Fang, F | 1 |
| Xiao, J | 1 |
| Wu, HS | 1 |
| Zhu, C | 1 |
| Guo, W | 1 |
| Jin, Z | 1 |
| Yeşildağ, A | 1 |
| Ayata, A | 1 |
| Baykal, B | 1 |
| Koroglu, M | 1 |
| Yildiz, H | 1 |
| Oral, B | 1 |
| Oktem, F | 1 |
| Oyar, O | 1 |
| Kanaumi, T | 1 |
| Takashima, S | 1 |
| Hirose, S | 1 |
| Kodama, T | 1 |
| Iwasaki, H | 1 |
| Sakamoto, O | 1 |
| Ohura, T | 1 |
| Matsubara, Y | 1 |
| Takayanagi, M | 1 |
| Tsuchiya, S | 1 |
| Keeratichamroen, S | 1 |
| Cairns, JR | 1 |
| Sawangareetrakul, P | 1 |
| Liammongkolkul, S | 1 |
| Champattanachai, V | 1 |
| Srisomsap, C | 1 |
| Kamolsilp, M | 1 |
| Wasant, P | 1 |
| Svasti, J | 1 |
| Mahfoud, A | 1 |
| Domínguez, CL | 1 |
| Pérez, A | 1 |
| Rizzo, C | 1 |
| Pérez, B | 1 |
| Van Gosen, L | 1 |
| Giardini, O | 1 |
| Marzetti, G | 1 |
| Lubrano, R | 1 |
| Laurenti, F | 1 |
| Martino, F | 1 |
| Mannarino, O | 1 |
| D'Eufemia, P | 1 |
| Ruberto, U | 1 |
| Bartlett, K | 1 |
| Church, JA | 1 |
| Koch, R | 1 |
| Shaw, KN | 1 |
| Nye, CA | 1 |
| Donnell, GN | 1 |
| Dave, P | 1 |
| Curless, RG | 1 |
| Steinman, L | 1 |
| Rosario, P | 1 |
| Medina, JM | 1 |
| Karsten, J | 1 |
| Hansen, HG | 1 |
| Heuer, R | 1 |
| Wulff, UC | 1 |
| Kneer, J | 1 |
| Boeckx, RL | 1 |
| Hicks, JM | 1 |
| van Dyk, JC | 1 |
| Meiring, JL | 1 |
| Prinsloo, JG | 1 |
| del Valle, JA | 1 |
| Pérez-Cerdá, C | 1 |
| Oster, JR | 2 |
| Perez, GO | 2 |
| Canterbury, JM | 1 |
| Alpert, HC | 1 |
| Vaamonde, CA | 2 |
| Satoh, T | 1 |
| Narisawa, K | 1 |
| Igarashi, Y | 1 |
| Saitoh, T | 1 |
| Hayasaka, K | 1 |
| Ichinohazama, Y | 1 |
| Onodera, H | 1 |
| Tada, K | 1 |
| Oohara, K | 1 |
| Fraser, AD | 1 |
| Rosenblatt, DS | 2 |
| Ledley, FD | 3 |
| Wasserstein, MP | 1 |
| Gaddipati, S | 1 |
| Snyderman, SE | 1 |
| Eddleman, K | 1 |
| Desnick, RJ | 1 |
| Sansaricq, C | 1 |
| van den Berg, H | 1 |
| Boelkens, MT | 1 |
| Hommes, FA | 1 |
| Bakker, HD | 1 |
| Duran, M | 2 |
| van Gennip, AH | 1 |
| van Sprang, FJ | 1 |
| Wadman, SK | 2 |
| Matsuda, I | 1 |
| Terashima, T | 1 |
| Yamamoto, J | 1 |
| Akaboshi, I | 1 |
| Shinozuka, S | 1 |
| Hattori, S | 1 |
| Nagata, N | 1 |
| Oka, Y | 1 |
| Bruinvis, L | 1 |
| Ketting, D | 1 |
| Schreier, K | 1 |
| Porath, U | 1 |
| Coude, FX | 1 |
| Sweetman, L | 1 |
| Nyhan, WL | 1 |
| Mostafanejad, K | 1 |
| Vaandrager, GJ | 1 |
| Williams, AJ | 1 |
| Ireland, JT | 1 |
| Rozen, R | 1 |
| Buhl, S | 1 |
| Mohyuddin, F | 1 |
| Caillibot, V | 1 |
| Scriver, CR | 1 |
| Barness, LA | 1 |
| Gordon, BA | 1 |
| Carson, RA | 1 |
| Crane, AM | 1 |
| Martin, LS | 1 |
| Valle, D | 1 |
| Shoemaker, JD | 1 |
| Lynch, RE | 1 |
| Hoffmann, JW | 1 |
| Sly, WS | 1 |
| Gerhardt, M | 1 |
| Burke, EM | 1 |
| Brandt, IK | 1 |
| Crabb, DW | 1 |
| Shapira, SK | 1 |
| Levy, HL | 1 |
| Roodhooft, AM | 1 |
| Baumgartner, ER | 1 |
| Martin, JJ | 1 |
| Blom, W | 1 |
| Van Acker, KJ | 1 |
| van der Meer, SB | 1 |
| Spaapen, LJ | 1 |
| Fowler, B | 1 |
| Jakobs, C | 1 |
| Kleijer, WJ | 1 |
| Wendel, U | 1 |
| Mills, GA | 1 |
| Walker, V | 1 |
| Clench, MR | 1 |
| Parr, VC | 1 |
| Rosenberg, NL | 1 |
| Kok, AJ | 1 |
| van Zoeren-Grobben, D | 1 |
| van de Bor, M | 1 |
| Mooy, PD | 1 |
| van Gelderen, HH | 1 |
| Royer, P | 1 |
5 reviews available for methylmalonic acid and Acidosis
| Article | Year |
|---|---|
Organic acidemias: a methylmalonic and propionic focus.
Topics: Acidosis; Aftercare; Amino Acid Metabolism, Inborn Errors; Diet, Protein-Restricted; Early Diagnosis | 2008 |
Vitamin-responsive inborn errors of metabolism.
Topics: Acetyl-CoA Carboxylase; Acidosis; Amino Acid Metabolism, Inborn Errors; Animals; Biotin; Folic Acid; | 1983 |
[A molecular study of methylmalonic aciduria: structure-function correlations].
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Humans; Methylmalonic Acid; Mol | 1996 |
[Congenital metabolic acidosis in the postnatal period].
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Fructose-1,6-Diphosphatase Deficiency; Glutarates; G | 1978 |
Symmetrical necrosis of the basal ganglia in methylmalonic acidaemia.
Topics: Acidosis; Central Nervous System Diseases; Child; Child, Preschool; Combined Modality Therapy; Fibro | 1990 |
47 other studies available for methylmalonic acid and Acidosis
| Article | Year |
|---|---|
Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening.
Topics: Acetylcarnitine; Acidosis; Asian People; Asymptomatic Diseases; Carboxy-Lyases; Carnitine; Carrier P | 2015 |
The role of previously unmeasured organic acids in the pathogenesis of severe malaria.
Topics: 3-Hydroxybutyric Acid; Acidosis; Adolescent; Adult; Aged; Chromatography, Liquid; Female; Humans; Hy | 2015 |
A new case of malonyl-CoA decarboxylase deficiency with mild clinical features.
Topics: Acidosis; Adolescent; Base Sequence; Carboxy-Lyases; Cardiomyopathies; Child; Chromosomes; Exons; Fe | 2016 |
Vitamin B12 status, methylmalonic acidemia, and bacterial overgrowth in short bowel syndrome.
Topics: Acidosis; Adolescent; Humans; Intestines; Male; Methylmalonic Acid; Short Bowel Syndrome; Vitamin B | 2009 |
Increase in urinary purines and pyrimidines in patients with methylmalonic aciduria combined with homocystinuria.
Topics: Acidosis; Adult; Biomarkers; Child, Preschool; Chromatography, Liquid; Homocystinuria; Humans; Male; | 2010 |
Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.
Topics: Acidosis; Aorta, Thoracic; DNA, Mitochondrial; Fatal Outcome; Female; Genetic Diseases, Inborn; Huma | 2010 |
Quiz page November 2010: a young woman with metabolic acidosis, hyperammonemia, and visual disturbance. Methylmalonic acidemia complicated with toxic amblyopia.
Topics: Acidosis; Adult; Amblyopia; Anorexia; Diagnosis, Differential; Dyspnea; Female; Humans; Methylmaloni | 2010 |
Growth hormone deficiency associated with methylmalonic acidemia.
Topics: Acidosis; Child; Child, Preschool; Glucagon; Growth; Growth Disorders; Growth Hormone; Human Growth | 2004 |
[Diagnosis and treatment of methylmalonic acidemia in 14 cases].
Topics: Acidosis; Acids; Child; Child, Preschool; Diet, Protein-Restricted; Female; Humans; Infant; Infant, | 2004 |
Magnetic resonance imaging and diffusion-weighted imaging in methylmalonic acidemia.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Diffusion Magnetic Resonance Imaging; Globus Pallidu | 2005 |
Neuropathology of methylmalonic acidemia in a child.
Topics: Acidosis; Brain; Child, Preschool; Fatal Outcome; Humans; Infant; Infant, Newborn; Male; Methylmalon | 2006 |
Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia.
Topics: Acidosis; Asian People; DNA Mutational Analysis; Female; Haplotypes; Humans; Infant; Infant, Newborn | 2007 |
Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia.
Topics: Acidosis; Alkyl and Aryl Transferases; Amino Acid Metabolism, Inborn Errors; DNA Mutational Analysis | 2007 |
[Diagnosis and treatment of methylmalonic aciduria: a case report].
Topics: Acidosis; Amino Acid Substitution; Child, Preschool; Coma; Diet, Protein-Restricted; Diseases in Twi | 2007 |
[The neonatal acute form of methylmalonic acidemia. Report of 2 clinical cases].
Topics: Acidosis; Acute Disease; Amino Acid Metabolism, Inborn Errors; Female; Humans; Hyperglycemia; Infant | 1980 |
Immune functions in methylmalonicaciduria.
Topics: Acidosis; Child; Child, Preschool; Female; Humans; Immunity, Cellular; Immunoglobulin A; Immunoglobu | 1984 |
Cerebellar hemorrhage complicating methylmalonic and propionic acidemia.
Topics: Acidosis; Bicarbonates; Cerebellar Diseases; Female; Hemorrhage; Humans; Infant, Newborn; Male; Malo | 1984 |
Stimulation of ketogenesis by propionate in isolated rat hepatocytes: an explanation for ketosis associated with propionic acidaemia and methylmalonic acidaemia?
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Animals; Carbon Dioxide; Cells, Cultured; Fatty Acid | 1982 |
[Vitamin-B12-dependent methylmalonic acidemia in twins].
Topics: Acidosis; Diseases in Twins; Glycine; Humans; Infant; Malonates; Metabolism, Inborn Errors; Methylma | 1983 |
Methylmalonic acidemia with the unusual complication of severe hyperglycemia.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Gas Chromatography-Mass Spectrometry; Humans; Hyperg | 1982 |
[Methylmalonic aciduria. A case report].
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Dietary Proteins; Female; Humans; Infant; Malonates; | 1982 |
[Human fibroblast bank for studying amino acid disorders and organic acidemias].
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Cell Line; Cells, Cultured; Child; Child, Preschool; | 1982 |
Plasma parathyroid hormone and divalent cation response to induction of acute metabolic acidosis.
Topics: Acidosis; Acute Disease; Animals; Bicarbonates; Calcium; Dogs; Female; Hematocrit; Lactates; Lactic | 1982 |
Dietary therapy in two patients with vitamin B12-unresponsive methylmalonic acidemia.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Creatinine; Dietary Proteins; Fema | 1981 |
Ethylene glycol, glycolic acid, and metabolic acidosis of unknown origin.
Topics: Acidosis; Diagnosis, Differential; Ethylene Glycol; Ethylene Glycols; Glycolates; Humans; Infant; Me | 1993 |
Successful pregnancy in severe methylmalonic acidaemia.
Topics: Acidosis; Adult; Female; Humans; Hydroxocobalamin; Infant, Newborn; Male; Metabolism, Inborn Errors; | 1999 |
A case of methylmalonic and propionic acidemia due to methulmalonyl-CoA carbonylmutase apoenzyme deficiency.
Topics: Acidosis; Amino Acids; Apoenzymes; Apoproteins; Glycine; Humans; Infant, Newborn; Isomerases; Male; | 1976 |
[Methylmalonic acidemia. Diagnosis and treatment in various patients].
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Infant, Newborn; Intellectua | 1978 |
Methylmalonic acidemia.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Ammonia; Female; Glycine; Humans; Hypoglycemia; Infa | 1978 |
Relationship between blood pH and potassium and phosphorus during acute metabolic acidosis.
Topics: Acidosis; Acute Disease; Animals; Bicarbonates; Blood; Carbon Dioxide; Chlorides; Dogs; Female; Hydr | 1978 |
Deranged isoleucine metabolism during ketotic attacks in patients with methylmalonic acidaemia.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Chromatography, Gas; Female; Human | 1978 |
Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia.
Topics: Acetyl Coenzyme A; Acetyltransferases; Acidosis; Acyl Coenzyme A; Ammonia; Animals; Glutamates; Kine | 1979 |
Nursing care study: methylmalonic acidaemia.
Topics: Acidosis; Humans; Male; Malonates; Metabolism, Inborn Errors; Methylmalonic Acid; Pediatric Nursing; | 1978 |
[Letter: Sudden infant death syndrome (SIDS)].
Topics: Acidosis; Female; Fibroblasts; Genetic Counseling; Humans; Infant; Metabolism, Inborn Errors; Methyl | 1975 |
Neonatal acidosis associated with transient methylmalonicaciduria and vitamin B12 deficiency.
Topics: Acid-Base Equilibrium; Acidosis; Humans; Infant, Newborn; Malonates; Metabolism, Inborn Errors; Meth | 1977 |
Evaluation of metabolic pathway activity in cultured skin fibroblasts and blood leukocytes.
Topics: Acidosis; Adult; Cells, Cultured; Child; Child, Preschool; Female; Fibroblasts; Galactose; Galactose | 1977 |
Organic acidosis in infants.
Topics: Acidosis; Adult; Child; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Lactates; Methyl | 1977 |
Methylmalonic acidemia controlled with oral administration of vitamin B12.
Topics: Acidosis; Administration, Oral; Humans; Infant; Male; Malonates; Methylmalonic Acid; Vitamin B 12 | 1976 |
Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase.
Topics: Acidosis; Base Sequence; Child, Preschool; Homozygote; Humans; Infant; Methylmalonic Acid; Methylmal | 1992 |
Misidentification of propionic acid as ethylene glycol in a patient with methylmalonic acidemia.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Diagnostic Errors; Ethylene Gly | 1992 |
Methylmalonic aciduria presenting in an adult.
Topics: Acidosis; Adult; Alcoholism; Humans; Male; Metabolism, Inborn Errors; Methylmalonic Acid | 1991 |
Ketoacidotic crisis as a presentation of mild ("benign") methylmalonic acidemia.
Topics: Acidosis; Amino Acids; Ammonia; Child, Preschool; Female; Fibroblasts; Humans; Ketones; Ketosis; Met | 1991 |
Prenatal treatment of a patient with vitamin B12-responsive methylmalonic acidemia.
Topics: Acidosis; Administration, Oral; Female; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Pregn | 1990 |
Analysis of urinary organic acids by Plasmaspray liquid chromatography/mass spectrometry.
Topics: Acidosis; Acids; Chromatography, High Pressure Liquid; Humans; Infant, Newborn; Infant, Newborn, Dis | 1988 |
Methylmalonic acid, methanol, metabolic acidosis, and lesions of the basal ganglia.
Topics: Acidosis; Basal Ganglia Diseases; Humans; Malonates; Methanol; Methylmalonic Acid | 1987 |
[Diagnosis of hereditary metabolic disorders in newborn and young infants].
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Carbamoyl-Phosphate Synthase (Ammonia); Carbohydrate | 1985 |
Hyperuricemia in children, with the exception of the Lesch-Nyhan syndrome.
Topics: Acidosis; Acute Disease; Acute Kidney Injury; Adult; Child; Child, Preschool; Chronic Disease; Femal | 1974 |