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3-alpha-hydroxyacyl-CoA-dehydrogenase deficiency (HAD deficiency)
Genetics:
- caused by defects in HADHSC gene
Clinical manifestations:
1) various clinical presentations
2) hypoglycemia
3) hepatoencephalopathy
4) myopathy or cardiomyopathy
4) sudden death
General
lipid metabolism, inborn error; lipid storage disease; lipidosis
Database Correlations
OMIM 231530
References
OMIM :accession 231530