Premium
Caloric restriction in Alström syndrome prevents hyperinsulinemia
Author(s) -
Lee NiChung,
Marshall Jan D.,
Collin Gayle B.,
Naggert Jürgen K.,
Chien YinHsiu,
Tsai WenYu,
Hwu WuhLiang
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32730
Subject(s) - hyperinsulinemia , medicine , endocrinology , insulin , obesity , pathogenesis , insulin resistance
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. © 2009 Wiley‐Liss, Inc.