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Clinical and Molecular Characterization of Korean Patients with Glycogen Storage Type 1b  

Cho, Ja Hyang (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Kim, Yoo-Mi (Department of Pediatrics, College of Medicine, Busan National University)
Choi, Jin-Ho (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Lee, Beom Hee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Kim, Gu-Hwan (Yangsan Medical Genetics Center, Asan Medical Center)
Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Publication Information
Journal of The Korean Society of Inherited Metabolic disease / v.15, no.1, 2015 , pp. 18-24 More about this Journal
Abstract
Glycogen storage disease type Ib (GSD Ib) is one of the rare inherited metabolic disease caused by mutation of SLC37A4 gene. Clinical characteristics include hepatomegaly, hypoglycemia, lactic acidosis, hyperlipidemia and high serum uric acid concentration. The authors analyzed clinical and molecular characteristics of three Korean patients (one male and two females) with GSD Ib by retrospective review of medical records. Two patients were diagnosed in toddler period by hypoglycemia and hepatomegaly. One patient was diagnosed by growth retardation and short stature in puberty. c.412T>C (p.Trp138Arg) (3/6 alleles, 50.0%) was most frequently observed, following by p.Leu348Valfs*53 (1 allele), p.Pro191Leu (1 allele), p.Ala148Val (1 allele) in molecular analysis. Uncooked corn starch and allopurinol was administered. Because all three patients had neutropenia and recurrent infections, G-CSF was administered. Two patients had severe osteoporosis needing calcium supplement. The patient who diagnosed at puberty had relatively poor prognosis demonstrated by having severe infection and complications in liver and kidney.
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