title: Hyperinsulinemic Hypoglycemia of Infancy due to Novel HADH Mutation in Two Siblings.
abstract: BACKGROUND
  Hyperinsulinemia is the commonest cause of persistent hypoglycemia in infancy. Inactivating mutations in the genes ABCC8 and KCNJ11 are the commonest cause. Mutation in the HADH gene, which encodes the short-chain-L-3-hydroxyacyl-CoA dehydrogenase, is a rare cause.
  
  
  METHODS
  Two Indian sisters who presented with hyperinsulinemic hypoglycemia of infancy.
  A novel homozygous missense mutation in the HADH gene was identified in both the sisters, while the parents were found to be heterozygous carriers.
  
  
  RESULTS
  Establishment of molecular diagnosis, optimization of therapy and counseling of parents regarding risk of recurrence in future pregnancy.
  
  
  CONCLUSIONS
  HADH mutations are rare causes of hypoglycemia and can be mitigated with diazoxide and appropriate dietary therapy if identified early.
authors: Department of Pediatrics, AIIMS, New Delhi, India; and #Institute of Biomedical and Clinical Science, University of Exeter Medical School, UK. Correspondence to: Dr Vandana Jain, Additional Professor, Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India. drvandanajain@gmail.com.
authors: Amit Kumar
authors: AK
authors: Satapathy
authors: Vandana
authors: V
authors: Jain
authors: Sian
authors: S
authors: Ellard
authors: Sarah E
authors: SE
authors: Flanagan
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000235:genetics*; D002675:Child, Preschool; D044903:Congenital Hyperinsulinism / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation / Q000235:genetics; D035781:Siblings
chemical_list: D015094:3-Hydroxyacyl CoA Dehydrogenases