Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
| Disorder | |
|---|---|
| OMIM #: | #251000 (Click to access OMIM database) |
| Disorder: | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| Also known as: | MMA due to MCM deficiency |
| Clinical | |
| Phenotype: | ketonuria, ketoacidosis, hyperglycinemia, metabolic acidosis, unresponsive to vitamin B12, hyperammonemia, thrombocytopenia, neutropenia, hyperbilirubinemia, hepatomegaly, failure to thrive, lethargy, vomiting, respiratory distress, interstitial nephritis, chronic renal failure, cardiomyopathy, hypotonia, developmental delay |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Hutterite | |
| Gene: | MUT |
| Base Change: | C>T, at nucleotide 1420 |
| Amino Acid Change: | arg 474 --> |
| Last updated: | 2022-11-06 |
| References |
|---|
| Fowlow SB, Holmes TM, Morgan K, Snyder FF. (1985) Screening for methylmalonic aciduria in Alberta: a voluntary program with particular significance for the Hutterite brethren. Am J Med Genet 22:513-519. PubMed ID: 2865895 |
| Worgan L, Niles K, Tirone J, Hofmann A, Verner A, Sammak A, Kucic T, Lepage P, and Rosenblatt D. (2006) Spectrum of Mutations in mut Methylmalonic Acidemia and Identification of a Common Hispanic Mutation and Haplotype. Hum Mutat 27(1): 31-43. PubMed ID: 16281286 |
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