3-alpha-hydroxyacyl-CoA-dehydrogenase deficiency (HAD deficiency)

Genetics

• caused by defects in HADHSC gene

Clinical manifestations

• various clinical presentations
• hypoglycemia
• hepatoencephalopathy
• myopathy or cardiomyopathy
• sudden death

More general terms

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

Database

• OMIM: https://mirror.omim.org/entry/231530