HADH gene

Recessively inherited inactivating mutations in HADH cause leucine-induce HH which responds well to diazoxide. The clinical presentation is heterogeneous, with age at presentation ranging from birth to late infancy. In some patients increased plasma hydroxybutyrylcarnitine and urinary 3-hydroxyglutarate levels are observed. Whilst the majority of mutations affect the protein coding regions of the gene a deep intronic mutation has been identified in the Turkish population.