Clinical Manifestation and Effect of Corn Starch on Height Growth in Korean Patients with Glycogen Storage Disease Type Ia / 대한소아내분비학회지

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.

Dumping Syndrome in a Child with Gastrojejunal Tube Feeding / 대한소아소화기영양학회지

Dumping syndrome is a known complication of gastric surgery in adults, but a very rare disease in the pediatric population. We report on a case of dumping syndrome in a 19-month-old child, who underwent gastrojejunal feeding tube insertion for the treatment and prevention of gastroesophageal reflux and frequent aspiration pneumonia. At 17 months of age, 2 months after the beginning of gastrojejunal tube feeding, postprandial diaphoresis, palpitation, lethargy, bloating, and diarrhea occurred, and a single episode of convulsion with hypoglycemia were noted. Early and late dumping syndrome was confirmed by an abnormal oral glucose tolerance test with early onset hyperglycemia followed by delayed onset hypoglycemia. Diet therapy including uncooked corn starch then improved the postprandial diaphoresis, abnormal glucose levels, and her nutritional status. We conclude that dumping syndrome may be considered as a complication of gastrojejunal tube feeding in a child.