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

More general terms

• 3-methylglutaconic aciduria