long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.
MONDO:0017715
3-hydroxyacyl-CoA dehydrogenase deficiency
excluded_subClassOf
MONDO:0017713
disorder of fatty acid oxidation and ketogenesis
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
MONDO:0024573
familial hypertrophic cardiomyopathy
is_a
3-hydroxyacyl-CoA dehydrogenase long chain deficiency
related
HELLP syndrome, maternal, of pregnancy
exact
LCHAD deficiency
exact
LCHADD
exact
fatty liver, acute, of pregnancy
exact
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
exact
long-chain 3-OH acyl-CoA dehydrogenase deficiency
related
long-chain 3-hydroxy acyl CoA dehydrogenase deficiency
related
long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
exact
trifunctional protein deficiency type 1
related