Verification of diagnosis in a 17‐year‐old boy with clinical glycogen storage disease type Ia by mutation screening

Autor: Janice Y. Chou, M. Brandis, H. Niederhoff, Dietrich Matern
Rok vydání: 1996
Předmět:
Zdroj: Journal of Inherited Metabolic Disease. 19:205-208
ISSN: 1573-2665
0141-8955
DOI: 10.1007/bf01799430
Popis: Glycogen storage disease type Ia (GSD Ia ; Von Gierke disease ; McKusick 232200) is caused by deficient activity of the catalytic subunit of microsomal glucose-6-phosphatase (G-6-Pase ; EC 3.1.3.9). Catalysing the last step in glycogenolysis and gluconeogenesis, this enzyme plays a pivotal role in both metabolic pathways. Thus, its deficiency leads to hepatomegaly, short stature and hypotrophic muscles. Characteristic laboratory findings of GSD Ia include recurrent hypoglycaemia, lactic acidosis, hyperuricaemia, and hypertriglyceridaemia (Chen and Burchell 1995). Without adequate treatment with frequent feedings of a diet rich in complex carbohydrates and allopurinol, complications such as osteoporosis, nephropathy, liver adenoma and pancreatitis may develop. The demonstration of reduced G-6-Pase activity measured in a fresh liver biopsy specimen is still the 'gold standard' for verification of the clinical diagnosis. However, in 1993 the gene spanning 12.5 kb on chromosome 17 and consisting of 5 exons coding for the enzyme was cloned (Lei et al 1993) and mutations which lead to impaired enzyme activity were detected. We report a 17-year-old male patient who was first diagnosed as having GSD Ia solely on the basis of the clinical symptoms and G-6-Pase gene analysis.
Databáze: OpenAIRE
Externí odkaz: