Title

Caloric restriction in Alstrom syndrome prevents hyperinsulinemia.

Document Type

Article

Publication Date

2009

Keywords

Body-Mass-Index, Caloric-Restriction, Cardiomyopathy-Dilated, Homozygote, Humans, Hyperinsulinism, Infant, Insulin, Male, Obesity, Proteins, Retinitis-Pigmentosa, Sequence-Deletion, Syndrome

JAX Location

see Reprint Collection (a pdf is available)

JAX Source

Am J Med Genet A 2009 Feb; 149A(4):666-8.

Abstract

Alstrom 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 Alstrom 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 Alstrom syndrome, and early-commenced treatment prevents hyperinsulinemia.

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