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
DCMA SYNDROME 
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: c.130-1G>C
Amino Acid Change: splicing defect
Last updated: 2020-04-09 

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 
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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