Persistent Hyperinsulinemic Hypoglycemia of Infancy ('nesidioblastosis'): Autosomal recessive inheritance in 7 pedigrees

B. Glaser, M. Phillip, R. Carmi, E. Lieberman, H. Landau

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33 Scopus citations

Abstract

Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) is a rare disease characterized clinically by persistent hypoglycemia with inappropriately elevated circulating insulin concentrations. Here we report on 7 pedigrees including 21 cases. The pedigrees are derived from 3 distinct ethnic groups, and include a very large Bedouin family, and Arab family, and 5 smaller pedigrees of Jewish families all of Eastern European origin. Data obtained from these families and from other families reported in the literature strongly suggest that PHHI is inherited as an autosomal recessive disorder.

Original languageEnglish
Pages (from-to)511-515
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume37
Issue number4
DOIs
StatePublished - 1 Jan 1990
Externally publishedYes

Keywords

  • autosomal recessive
  • consanguinity
  • hyperinsulinism
  • hypoglycemia

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