3-Methylglutaconic Aciduria, Type V
| Disorder | |
|---|---|
| OMIM #: | #610198 (Click to access OMIM database) |
| Disorder: | 3-Methylglutaconic Aciduria, Type V |
| Also known as: | CARDIOMYOPATHY, DILATED, WITH ATAXIA DCMA, MGA, TYPE V |
| Clinical | |
| Phenotype: | severe, early onset dilated cardiomyopathy, long QT syndrome, sudden death, growth deficiency, cerebellar ataxia, developmental delay/mental retardation, cryptorchidism, increased 3-methylglutaconic acid in urine, optic atrophy |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Hutterite | |
| Gene: | DNAJC19 |
| Base Change: | IVS3-1 G>C |
| Amino Acid Change: | |
| Last updated: | 2009-03-15 |
| References |
|---|
| Davey KM, Parboosingh JS, McLeod DR, Chan A, Casey R, Ferreira P, Snyder FF, Bridge PJ, and Bernier FP. (2006) Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet 43(5): 385-393. PubMed ID: 16055927 |
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