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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
General
lipid metabolism, inborn error; lipid storage disease; lipidosis
References
UniProt :accession P40939