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Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency

Prevalence: 1/250000

metabolic

Official·OMIM:609016 Official·ORPHA5

Fatty acid oxidation disorder due to HADHA gene mutations.

Associated Genes

HADHAHydroxyacyl-CoA Dehydrogenase Trifunctional Multienzyme Complex Subunit Alpha

Chromosome 2Autosomal Recessive