Glycogen storage disease IXa in a 9-year-old Filipino boy with short stature: A case report

@#Glycogen storage disease (GSD) type IXa, due to a deficiency of hepatic phosphorylase b kinase, results in liver enlargement, growth retardation and fasting ketosis. Many are asymptomatic and do not require treatment. This is the first documented GSD IXa in a Filipino boy evaluated for short stature.

New perspectives of glycogen storage disease / 国际儿科学杂志

Glycogen storage diseases (GSD) are a group of inherited disorders characterized by enzyme defects that affect the glycogen metabolism. Hypoglycemia, hepatomegaly, splenomegaly and growth retardation are the main clinical manifestations. The enzymes affecting glycogen synthesis and degradation are varied.Consequently, the clinical manifestations are different because of different enzyme defection. Most patients treated regularly can obtain the normal growth and grow to adults, but still can be accompanied long-term complications by adulthood. Now some scientists find new modified cornstarch is superior to standard therapy in maintaining blood glucose levels. Gene therapy is still in the experimental animals.

A Case of Dumping Syndrome Following Nissen Fundoplication in an Infant / 대한소아소화기영양학회지

The dumping syndrome has been a known complication of gastric surgery in adults, but it is recognized as a very rare disease in the pediatric population, especially in Korea. We report a case of dumping syndrome in a 10-month-old infant, who underwent Nissen fundoplication for the treatment of gastroesophageal reflux(GER). He was admitted because of aspiration pneumonia, and diagnosed as GER by 24-hour ambulatory esophageal pH monitoring test. For the treatment of GER, Nissen fundoplication was performed. After the operation, symptoms occurred within 30 minutes of meals, such as diaphoresis, palpitation, weakness, abdominal fullness, nausea, and diarrhea. The gastric emptying scan showed very rapid gastric emptying. His oral glucose tolerance tests revealed early-onset hyperglycema followed by delayed-onset hypoglycemia, which was the characteristic finding of the dumping syndrome. We introduced uncooked cornstarch to resolve symptoms and maintain the serum glucose level. After the feeding of uncooked cornstarch, his symptoms subsided and normal oral glucose test was restored. After the six months of treatment, his weight and height were increased dramatically from below 3 percentiles up to the normal range. The dumping syndrome should be considered when an infant suffers from the feeding difficulties after the gastric surgery like Nissen fundoplication, and the diet therapy including uncooked cornstarch could be applied as an effective measure.

Uncooked Cornstarch Therapy in Type I Glycogen-Storage Disease (GSD-I)

OBJECTIVE: A few years ago it was shown that uncooked cornstarch feeding(UCS) could correct the biochemical abnormalities resulting from a deficiency of glucose-6-phosphatase in children with type ment. So far, little experience is available with UCS in Korea. We studied to compare the effects on biochemical control and growth of therapy with portacaval shunt and therapy with UCS. METHODS: Enghteen patients with GSD-I, ranging in age from 2 to 17 years, were included in these studies. They were thirteen male and five female children, and were diagnosed as GSD-I in Seoul National University from 1982 to 1994. Six patients (age 6.75+/-3.06, range 4.33~12.75 years) received portacaval shunt after preoperative intravenous hyperalimentation, and fifteen patients(age 7.08+/-4.09, rnage 2.00~17.00years) received UCS(1.75~2g/kg, four times daily). They included three patients who have had hepatic adenoma during follow-up after portacaval shunt. Height standard deviation score(SDS), liver size, blood glucose, serum cholesterol, serum uric acid, and serum transaminase were measured. RESULTS: After UCS, the changes of height SDS, liver size, blood glucose, and serum uric acid were significant but the changes of cholesterol, SGOT, and SGPT were not significant. The SDS of height increased significantly form -2.61+/-1.01 at onset of UCS to -1.93+/-0.86 after UCS. The liver size decreased significantly form 10.1+/-2.7cm at onset of UCS to 7.9+/-3.0cm after UCS. Blood glucose levels increased significantly form 50.6+/-14.3mg/dl at onset of UCS to 90.1+/-17.0mg/dl after UCS. Serum uric acid levels decreased significantly form 8.03+/-2.12mg/dl at onset of UCS to 5.67+/-2.34mg/dl after UCS. Statistically, significant difference were not found in those values after portacaval shunt. CONCLUSIONS: UCS was effective to maintain blood glucose, to minimize biochemical abnormalities and to optimize clinical outcome in patients with GSD. Individuals with GSD-I commonly developed hepatic adenoma and malignant transformation of these ademonas has occurred. So in any case, it is advisable to screen all GSD-I patients periodically by imaging techniques for tumor formation, and once tumors have been detected, to adopt strict dietary measures and observe them closely for evidence of suggestive malignant transformation.