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Caloric restriction in Alström syndrome prevents hyperinsulinemia.

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.
AuthorsNi-Chung Lee, Jan D Marshall, Gayle B Collin, Jürgen K Naggert, Yin-Hsiu Chien, Wen-Yu Tsai, Wuh-Liang Hwu
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 149A Issue 4 Pg. 666-8 (Feb 15 2009) ISSN: 1552-4833 [Electronic] United States
PMID19283853 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural)
Chemical References
  • ALMS1 protein, human
  • Blood Glucose
  • Cell Cycle Proteins
  • Insulin
  • Proteins
Topics
  • Blood Glucose (metabolism)
  • Body Mass Index
  • Caloric Restriction
  • Cardiomyopathy, Dilated (genetics)
  • Cell Cycle Proteins
  • Homozygote
  • Humans
  • Hyperinsulinism (blood, genetics, prevention & control)
  • Infant
  • Insulin (blood)
  • Male
  • Obesity (diet therapy, genetics, pathology)
  • Proteins (genetics)
  • Retinitis Pigmentosa (genetics)
  • Sequence Deletion
  • Syndrome

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