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Ann Pediatr Endocrinol Metab > Volume 12(1); 2007 > Article
Clinical Manifestation and Effect of Corn Starch on Height Growth in Korean Patients with Glycogen Storage Disease Type Ia.
Jungi Choi, Jung Min Ko, Gu Hwan Kim, Han Wook Yoo
1Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. hwyoo@amc.seoul.kr
2Medical Genetics Clinic and Laboratory, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Abstract
PURPOSE
Glycogen storage disease type Ia (GSD Ia) is an autosomal recessive disease characterized by hepatosplenomegaly, short stature, hypoglycemia, hyperuricemia and lactic academia. It is caused by mutations of glucose-6-phosphatase (G6Pase) gene located on chromosome 17q21. The study were undertaken to investigate clinical manifestations and genotype as well as to evaluate the effects of uncooked corn starch (UCCS) on height growth of pubertal and prepubertal subjects with GSD Ia. METHODS: We analyzed clinical data from 24 GSD Ia patients retrospectively by medical record review. Height standard deviation score (Ht-SDS) was calculated from 13 GSD Ia patients under age 15 treated with UCCS and followed-up over 1 year. DNA isolation, PCR reaction and DNA sequencing analysis were performed in all studied patients.
RESULTS
Hypertriglyceridemia (100%), elevated liver enzyme (85%), hyperuricemia (48%), hypercholesterolemia (45%), anemia (45%) were major laboratory findings in studied population. Four different mutations of G6Pase gene in 48 alleles were identified. C.648G>T mutation was the predominant mutation, allele frequency of which was 78.6% (33 alleles). The other mutations were p.Phe51Ser, p.Gly222Arg, p.Gly122Asp. The p.Phe51Ser was a novel mutation. Mean Ht-SDS at diagnosis and two years after UCCS treatment were -2.04+/-1.69 and -0.72+/-1.12 respectively, which were statistically significant (P=0.036).
CONCLUSION
The genotype of the G6Pase gene was nearly homogeneous in Korean patients with GSD Ia. Molecular analysis of the G6Pase gene will be the diagnosis of choice since the c.648G>T mutation accounts for 78.6% of mutations in Korean patients with GSD Ia. UCCS treatment has a beneficial effect on height growth of children and adolescents with GSD Ia.
Keywords: Glycogen storage disease type Ia;Glucose-6-phosphatase;Uncooked corn starch;Growth


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