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HADHA gene mutation; long chain enoyl CoA hydratase gene mutation
Clinical significance:
- defects in HADHA are a cause of trifunctional protein deficiency
- defects in HADHA are the cause of long-chain 3-hydroxyl-CoA dehydrogenase deficiency
- defects in HADHA are a cause of maternal acute fatty liver of pregnancy
Related
trifunctional enzyme subunit alpha, mitochondrial; TP-alpha; 78 kD gastrin-binding protein [includes: long-chain enoyl-CoA hydratase; long chain 3-hydroxyacyl-CoA dehydrogenase] (HADHA, HADH)
General
gene mutation testing; gene mutation analysis
References
Loinc