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.
MONDO:0000129
glutaric aciduria
is_a
MONDO:0004069
inborn mitochondrial metabolism disorder
is_a
MONDO:0017714
acyl-CoA dehydrogenase deficiency
is_a
MONDO:0024573
familial hypertrophic cardiomyopathy
is_a
EMA
related
Etfa deficiency
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Etfb deficiency
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Etfdh deficiency
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Glutaric Aciduria Type II
exact
MAD deficiency
exact
MADD
exact
electron transfer flavoprotein deficiency
exact
glutaric acidemia 2A
narrow
glutaric acidemia 2B
narrow
glutaric acidemia 2C
narrow
glutaric acidemia IIA
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glutaric acidemia IIB
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glutaric acidemia IIC
narrow
glutaric acidemia type 2
exact
glutaric acidemia type II
exact
glutaric aciduria type 2
exact
glutaric aciduria, type 2
exact
multiple acyl Coenzyme A dehydrogenase deficiency
exact
multiple acyl-CoA dehydrogenase deficiency
exact
SPAC1805.02c SPAC20G8.04c SPAC27D7.06