Genome-Wide Homozygosity Analysis Reveals HADH Mutations as a Common Cause of Diazoxide-Responsive Hyperinsulinemic-Hypoglycemia in Consanguineous Pedigrees

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Flanagan S. E., Patch A., Locke J. M., Akcay T., ŞİMŞEK E., Alaei M., ...Daha Fazla

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.96, sa.3, 2011 (SCI-Expanded, Scopus)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 96 Sayı: 3
• Basım Tarihi: 2011
• Doi Numarası: 10.1210/jc.2010-1906
• Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
• Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

Context and Objective: Recessive mutations in the hydroxyacyl-CoA dehydrogenase (HADH) gene encoding the enzyme 3-hydroxyacyl-CoA dehydrogenase are a rare cause of diazoxide-responsive hyperinsulinemic hypoglycemia (HH) with just five probands reported to date. HADH deficiency in the first three identified patients was associated with detectable urinary 3-hydroxyglutarate and raised plasma 3-hydroxybutyryl-carnitine levels, but two recent cases did not have abnormal urine organic acids or acylcarnitines.