Related Experiment Videos
Glycogen storage disease type Ia: frequency and clinical course in Turkish children
1Division of Pediatric Gastroenterology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Insights
Glycogen storage disease type Ia is common in Turkish children with liver issues. This study details its clinical features, high prevalence of hypertriglyceridemia, and frequent microalbuminuria.
Area of Science:
- Pediatrics
- Metabolic Disorders
- Hepatology
Background:
- Glycogen storage disease (GSD) encompasses various inherited metabolic disorders.
- GSD type Ia is a significant subtype, often presenting with prominent liver involvement.
- Understanding its epidemiology and clinical spectrum in specific populations is crucial for diagnosis and management.
Purpose of the Study:
- To determine the relative frequency of GSD type Ia in Turkish children with liver involvement.
- To characterize the clinical and laboratory findings, and prognosis of GSD type Ia in this cohort.
- To compare findings with existing international reports.
Main Methods:
- Retrospective analysis of 100 GSD patients with liver involvement diagnosed between 1980 and 1998.
- Documentation of clinical data, routine laboratory tests, urine albumin and calcium excretion, and plasma biotinidase activity.
- Histopathological examination of liver biopsies.
Main Results:
- GSD type Ia accounted for 45% of GSD cases with liver involvement.
- Diagnosis typically occurred before age 2, with hepatomegaly and abdominal protrusion as common findings.
- Elevated plasma biotinidase activity, hypertriglyceridemia, and hypertransaminasemia were near-universal; microalbuminuria was frequent (52.8%).
- Liver histology showed high rates of fibrosis and steatosis.
Conclusions:
- The prevalence of GSD type Ia in Turkish children with liver involvement is higher than previously reported.
- Clinical presentation includes significant metabolic derangements and frequent microalbuminuria.
- Long-term management requires ongoing monitoring for metabolic complications and growth retardation.
Abstract:
The aim of this study was to determine the relative frequency of type Ia in glycogen storage disease (GSD) with prominent liver involvement and to determine its clinical and laboratory findings and prognosis in Turkish children. From 1980 to 1998, 45 out of 100 GSD patients (27 male) with liver involvement had been diagnosed for type Ia. The files were retrospectively evaluated and clinical and laboratory features were documented. In addition to routine laboratory evaluations, urine albumin, calcium excretions, and plasma biotinidase activity were measured. Breast-feeding was continued in all infants. After 6 months of age, uncooked cornstarch was administered to the patients. The relative frequency of type Ia in GSD with liver involvement was 45%. The diagnosis was made in 71% of patients before 2 years of age (median 1 year). Main complaint was abdominal protruding (57.8%), and main physical finding was hepatomegaly (100%). Forty percent of the patients had growth retardation at diagnosis. Among laboratory parameters, hypertriglyceridemia (97.8%) and hypertransaminasemia (95.6%) were the most frequent findings following plasma biotinidase activity, which was elevated in all patients. Microalbuminuria was determined in 52.8% of the patients and hypercalciuria in 23.8%. Histopathological findings of the liver included fibrosis (75.6%), steatosis (37.8%), mosaicism (24.4%) and nuclear hyperglycogenation (15.6%). During follow-up period, the ratio of patients with growth retardation did not change. Transaminases were decreased in 48.7% of the patients. Although triglyceride and cholesterol levels decreased in the majority of the patients, they did not normalise. The prevalence of type Ia in GSD with prominent liver involvement was found higher than the other reports. Microalbuminuria was also higher than the previous reports.