Caloric restriction in Alström syndrome prevents hyperinsulinemia

Am J Med Genet A. 2009 Feb 15;149A(4):666-8. doi: 10.1002/ajmg.a.32730.

Abstract

Alström syndrome (AS; OMIM 203800) is an autosomal recessive disorder characterized by cone-rod dystrophy, dilated cardiomyopathy, sensorineural hearing impairment, developmental delay, and most case had both childhood-onset obesity and hyperinsulinemia. Currently, the pathogenesis of this disease is not clear. Here we report on an 18-month-old boy with Alström syndrome. He had obesity but with normal insulin and glucose levels. Molecular analysis of the ALMS1 gene revealed a 19 base pair homozygous deletion 11116_11134del in exon 16. His body mass index decreased from 25.0 to 20.7 after calorie restriction for 9 months, and his insulin and glucose levels remained normal. Finding in this case suggests that hyperinsulinemia is a secondary event in Alström syndrome, and early-commenced treatment prevents hyperinsulinemia.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Blood Glucose / metabolism
  • Body Mass Index
  • Caloric Restriction*
  • Cardiomyopathy, Dilated / genetics*
  • Cell Cycle Proteins
  • Homozygote
  • Humans
  • Hyperinsulinism / blood
  • Hyperinsulinism / genetics
  • Hyperinsulinism / prevention & control*
  • Infant
  • Insulin / blood
  • Male
  • Obesity / diet therapy*
  • Obesity / genetics*
  • Obesity / pathology
  • Proteins / genetics
  • Retinitis Pigmentosa / genetics*
  • Sequence Deletion
  • Syndrome

Substances

  • ALMS1 protein, human
  • Blood Glucose
  • Cell Cycle Proteins
  • Insulin
  • Proteins