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Methylmalonic acidemia.
| Content Provider | Semantic Scholar |
|---|---|
| Copyright Year | 1979 |
| Abstract | Methylmalonic acidemia (MMA) is a group of rare (approx. 1:50,000) autosomal recessive disorders of amino acid metabolism, involving defects in the conversion of methylmalonylCoA to succinyl-CoA (which would normally enter the Krebs cycle). The defect is genetically heterogeneous, and can be due to the lack of the enzyme methylmalonyl-CoA mutase (mut), partial reduction in its activity (mut), or to defects in cobalamin metabolism (vit B12 is a cofactor required in the conversion of methylmalonyl-CoA to succinyl-CoA). These defects result in the accumulation of methylmalonic acid. |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | https://www.orphananesthesia.eu/en/rare-diseases/in-progress/doc_view/293-methylmalonic-acidemia.html |
| PubMed reference number | 41966v1 |
| Volume Number | 15 |
| Issue Number | 3 |
| Journal | Kidney international |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | Acetyl-CoA C-Acyltransferase Acidosis Amino Acid Metabolism, Inborn Errors Amino Acids Autosomal recessive inheritance Citric Acid Cycle Genetic Heterogeneity Methylmalonic Acid Measurement Methylmalonic acidemia Methylmalonyl-CoA Mutase Vitamin B 12 acyl-CoA dehydrogenase amino acid metabolism cobalamin metabolic process |
| Content Type | Text |
| Resource Type | Article |
