methylmalonic acid has been researched along with Lipid Metabolism, Inborn Error in 12 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.
| Excerpt | Relevance | Reference |
|---|---|---|
| "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) |
| "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) |
| "A case of methylmalonic acidemia with intermittend homocystinuria is described." | 3.66 | [A case of cobalamin-dependent methylmalonic acidemia. Biochemical aspects, diagnosis and possible treatment (author's transl)]. ( Lehnert, W; Leupold, D; Schuchmann, L, 1978) |
| "Methylmalonic acidemia is an inborn error of metabolism known to be a cause of ketoacidosis and mental retardation." | 2.41 | High cognitive outcome in an adolescent with mut- methylmalonic acidemia. ( Levy, HL; Repetto, GM; Varvogli, L; Waisbren, SE, 2000) |
| "Methylmalonic aciduria (MMA) is an autosomal-recessive disorder caused by inadequate function of methylmalonyl-CoA mutase (MCM), a nuclear-encoded, mitochondrial enzyme that uses adenosylcobalamin as a cofactor." | 1.31 | mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation. ( Baumgartner, ER; Fuchshuber, A; Hildebrandt, F; Mucha, B; Vollmer, M, 2000) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 5 (41.67) | 18.7374 |
| 1990's | 1 (8.33) | 18.2507 |
| 2000's | 6 (50.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Kobayashi, H | 1 |
| Hasegawa, Y | 1 |
| Endo, M | 1 |
| Purevsuren, J | 1 |
| Yamaguchi, S | 1 |
| Mc Guire, PJ | 1 |
| Lim-Melia, E | 1 |
| Diaz, GA | 1 |
| Raymond, K | 1 |
| Larkin, A | 1 |
| Wasserstein, MP | 1 |
| Sansaricq, C | 1 |
| Boeckx, RL | 1 |
| Hicks, JM | 1 |
| Leonard, JV | 1 |
| Libert, R | 1 |
| Van Hoof, F | 1 |
| Thillaye, M | 1 |
| Vincent, MF | 1 |
| Nassogne, MC | 1 |
| de Hoffmann, E | 1 |
| Schanck, A | 1 |
| Varvogli, L | 1 |
| Repetto, GM | 1 |
| Waisbren, SE | 1 |
| Levy, HL | 1 |
| Fuchshuber, A | 1 |
| Mucha, B | 1 |
| Baumgartner, ER | 1 |
| Vollmer, M | 1 |
| Hildebrandt, F | 1 |
| Acquaviva, C | 1 |
| Benoist, JF | 1 |
| Callebaut, I | 1 |
| Guffon, N | 1 |
| Ogier de Baulny, H | 1 |
| Touati, G | 1 |
| Aydin, A | 1 |
| Porquet, D | 1 |
| Elion, J | 1 |
| Snyderman, SE | 1 |
| Schuchmann, L | 1 |
| Leupold, D | 1 |
| Lehnert, W | 1 |
| Fowlow, SB | 1 |
| Holmes, TM | 1 |
| Morgan, K | 1 |
| Snyder, FF | 1 |
5 reviews available for methylmalonic acid and Lipid Metabolism, Inborn Error
| Article | Year |
|---|---|
Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Developmental Disabilities; Humans; Kidney T | 2008 |
The management and outcome of propionic and methylmalonic acidaemia.
Topics: Humans; Lipid Metabolism, Inborn Errors; Methylmalonic Acid; Propionates; Treatment Outcome | 1995 |
High cognitive outcome in an adolescent with mut- methylmalonic acidemia.
Topics: Adolescent; Child; Cognition Disorders; Female; Humans; Intelligence Tests; Lipid Metabolism, Inborn | 2000 |
The dietary therapy of inherited metabolic disease.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Child; C | 1975 |
Carnitine therapy in disorders of propionate metabolism.
Topics: Carnitine; Child; Humans; Ketone Bodies; Lipid Metabolism, Inborn Errors; Methylmalonic Acid; Propio | 1986 |
7 other studies available for methylmalonic acid and Lipid Metabolism, Inborn Error
| Article | Year |
|---|---|
ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders.
Topics: Carnitine; Fatty Acids; Humans; Infant; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; | 2007 |
Methylmalonic acidemia with the unusual complication of severe hyperglycemia.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Gas Chromatography-Mass Spectrometry; Humans; Hyperg | 1982 |
Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias.
Topics: Adult; Carboxy-Lyases; Carnitine; Case-Control Studies; Gas Chromatography-Mass Spectrometry; Humans | 2000 |
mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.
Topics: Gene Deletion; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Methylmalonic Acid; Methylm | 2000 |
N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients.
Topics: Amino Acid Sequence; Amino Acid Substitution; Asparagine; Child; Child, Preschool; Female; Humans; I | 2001 |
[A case of cobalamin-dependent methylmalonic acidemia. Biochemical aspects, diagnosis and possible treatment (author's transl)].
Topics: Homocystinuria; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Malonates; M | 1978 |
Screening for methylmalonic aciduria in Alberta: a voluntary program with particular significance for the Hutterite Brethren.
Topics: Alberta; Ethnicity; Genetics, Population; Humans; Isomerases; Lipid Metabolism, Inborn Errors; Malon | 1985 |