CLINICAL PRESENTATION AND BIOCHEMICAL FINDINGS IN CHILDREN WITH GLYCOGEN STORAGE DISEASE TYPE 1A

Glycogen Storage Disease Type 1A

Abstract

Objective: To determine the clinical pattern of presentation and biochemical characteristics of glycogen storage disease (GSD) type 1a in children at a tertiary referral centre.

Study Design: Descriptive/ cross sectional study.

Place and Duration of Study: Department of Pediatric, division of Gastroenterology & Hepatology of the Children’s hospital, Lahore over a period of 11 years.

Patients and Methods: Confirmed cases of glycogen storage disease (clinical plus biochemical findings consistent with GSD 1a and proven on liver biopsy) were enrolled in this study from neonatal age till 18 years. Data was retrieved from files and electronic record for these cases. Diagnosis was made on the basis of history, clinical findings including hepatomegaly, hypertriglyceridemia, hypercholesterolemia, hypoglycemia and hyperuricemia (if present). Diagnosis was confirmed on liver biopsy. Patients with other storage disorders and benign and malignant tumours were excluded from the study.

Results: Total patients included in the study were 360 with male to female ratio of 1.25:1. Median age at the time of diagnosis was 25.6 months (age range from one month to 18 years). Most common presentation was abdominal distension (83%) followed by failure to thrive (69%) and recurrent wheezing and diarrhoea (44%) each. Seizures were present in only 1/3rd of children. Other presentations included vomiting, respiratory distress, altered sensorium, nephrocalcinosis, epistaxis and hypothyroidism. Few patients around 11% presented with acute hepatitis and later were diagnosed as GSD. Significant hepatomegaly was evident in almost all patients but nephromegaly was present in only 5.5% patients. All children had marked hypertriglyceridemia but cholesterol levels were raised in 1/3rd of children. A large majority of children had deranged ALT more than 2 times of normal and around 38% children had marked anemia. Significant hypoglycemia and metabolic acidosis was documented in around 1/3rd of children. Hyperuricemia was not a constant feature (16%). 

Conclusion: This study showed abdominal distension and failure to thrive with hepatomegaly a common presentation with hypertriglyceridemia a constant feature. Huge number of patients in this study showed common metabolic disorder in children with diverse clinical presentation.