long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency)

Pathology

• diminished or absent long-chain 3-hydroxyl-CoA dehydrogenase activity
• other enzyme activities of the trifunctional enzyme complex are normal or only slightly diminished

Genetics

• associated with defects in HADHA gene

Clinical manifestations

• similar to trifunctional protein deficiency (TFP deficiency)

Laboratory

• HADHA gene mutation

More general terms

• lipid metabolism, inborn error; lipid storage disease; lipidosis