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 DCMA SYNDROME |
| Clinical | |
| Phenotype: | severe, early onset dilated cardiomyopathy, long QT syndrome, sudden death, growth deficiency, ataxia, developmental delay, cryptorchidism, hypospadias, muscle weakness, optic atrophy, increased 3-methylglutaconic acid in urine, anemia |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Hutterite | |
| Gene: | DNAJC19 |
| Base Change: | c.130-1G>C |
| Amino Acid Change: | splicing defect |
| Last updated: | 2022-10-31 |
| References |
|---|
| Davey KM, Parboosingh JS, McLeod DR, Chan A, Casey R, Ferreira P, Snyder FF, Bridge PJ, 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 |
| Machiraju P, Degtiarev V, Patel D, Hazari H, Lowry RB, Bedard T, Sinasac D, Brundler MA, Greenway SC, Khan A. (2022) Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children. J Inherit Metab Dis 45(2): 366-376. PubMed ID: 34580891 |
| Rohani L, Machiraju P, Sabouny R, Meng G, Liu S, Zhao T, Iqbal F, Wang X, Ravandi A, Wu JC, Khan A, Shutt T, Rancourt D, Greenway SC. (2020) Reversible Mitochondrial Fragmentation in iPSC-Derived Cardiomyocytes From Children With DCMA, a Mitochondrial Cardiomyopathy. Can J Cardiol Apr;36(4):554-563. PubMed ID: 32046906 |
| Sparkes R, Patton D, Bernier F. (2007) Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein. Cardiol Young Apr;17(2):215-7. PubMed ID: 17244376 |
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