Amish, Mennonite, and Hutterite
Genetic Disorder Database

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 

Back