A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.
Comprehensive, easy-to-understand information about this condition
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very long chain acyl-CoA dehydrogenase deficiency
MONDO:0008723
carnitine-acylcarnitine translocase deficiency
MONDO:0008918
systemic primary carnitine deficiency disease
MONDO:0008919
3-hydroxy-3-methylglutaric aciduria
MONDO:0009520
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
MONDO:0011614
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
MONDO:0012173