Open Access3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency and Hyperinsulinemic Hypoglycemia: Characterization of a Novel Mutation and Severe Dietary Protein Sensitivity
Author(s) -
Ritika R. Kapoor,
Chela James,
Sarah E. Flanagan,
Sian Ellard,
Simon Eaton,
Khalid Hussain
Publication year - 2009
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2009-0423
Subject(s) - hyperinsulinemic hypoglycemia , medicine , endocrinology , enzyme , hypoglycemia , dehydrogenase , cofactor , mutation , urinary system , chemistry , biochemistry , biology , gene , diabetes mellitus
HADH encodes for the enzyme 3-hydroxyacyl-coenzyme A dehydrogenase (HADH) and catalyses the penultimate reaction in the beta-oxidation of fatty acids. All previously reported patients with mutations in HADH gene and hyperinsulinemic hypoglycemia (HH) showed raised plasma hydroxybutyrylcarnitine and urinary 3-hydroxyglutarate.
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