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3-methylglutaconic aciduria type 5; dilated cardiomyopathy with ataxia
Genetics:
- autosomal recessive
- associated with defects in TIM17A
Clinical manifestations:
- early-onset dilated cardiomyopathy
- growth failure
- cerebellar ataxia causing significant motor delays
- testicular dysgenesis
- growth failure
Laboratory:
- 24 hour urine increases in urine organic acids, particularly 3-methylglutaconic acid & 3-methylglutaric acid
General
3-methylglutaconic aciduria