Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

MONDO:0012173

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.

Also known as: HELLP syndrome, maternal, of pregnancy, LCHAD deficiency, LCHADD, fatty liver, acute, of pregnancy, long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, 3-hydroxyacyl-CoA dehydrogenase long chain deficiency, long-chain 3-OH acyl-CoA dehydrogenase deficiency

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