/long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Rare Disease

MONDO:0012173

Also Known As

HELLP syndrome, maternal, of pregnancyLCHAD deficiencyLCHADDfatty liver, acute, of pregnancylong chain 3-hydroxyacyl-CoA dehydrogenase deficiencylong-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency3-hydroxyacyl-CoA dehydrogenase long chain deficiencylong-chain 3-OH acyl-CoA dehydrogenase deficiencylong-chain 3-hydroxy acyl CoA dehydrogenase deficiencylong-chain 3-hydroxyacyl-CoA dehydrogenase deficiencytrifunctional protein deficiency type 1

Definition

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.