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Up to: Inborn mitochondrial metabolism disorder · Familial hypertrophic cardiomyopathy · Acyl-CoA dehydrogenase deficiency · Glutaric aciduria
Multiple acyl-CoA dehydrogenase deficiency
A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.
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Glutaric acidemia IIa 0 trials
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Glutaric acidemia IIb 0 trials
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Glutaric acidemia IIc 0 trials