title: 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.
authors.affiliation: Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
authors.forename: Ni-Chung
authors.initials: NC
authors.lastname: Lee
authors.forename: Jan D
authors.initials: JD
authors.lastname: Marshall
authors.forename: Gayle B
authors.initials: GB
authors.lastname: Collin
authors.forename: Jürgen K
authors.initials: JK
authors.lastname: Naggert
authors.forename: Yin-Hsiu
authors.initials: YH
authors.lastname: Chien
authors.forename: Wen-Yu
authors.initials: WY
authors.lastname: Tsai
authors.forename: Wuh-Liang
authors.initials: WL
authors.lastname: Hwu
mesh_terms: D001786:Blood Glucose / Q000378:metabolism; D015992:Body Mass Index; D031204:Caloric Restriction; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D018797:Cell Cycle Proteins; D006720:Homozygote; D006801:Humans; D006946:Hyperinsulinism / Q000097:blood / Q000235:genetics / Q000517:prevention & control*; D007223:Infant; D007328:Insulin / Q000097:blood; D008297:Male; D009765:Obesity / Q000178:diet therapy* / Q000235:genetics* / Q000473:pathology; D011506:Proteins / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics*; D017384:Sequence Deletion; D013577:Syndrome
chemical_list: C490729:ALMS1 protein, human; D001786:Blood Glucose; D018797:Cell Cycle Proteins; D007328:Insulin; D011506:Proteins