Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease
Section snippets
Patients
Our study included 54 patients with GSD I (44 GSD Ia and 10 GSD Ib; 28 males, 26 females; 0.9–43.7 years of age) from two Italian metabolic disease units. GSD I was diagnosed by evaluating glucose-6-phosphatase activity in intact and disrupted microsomes and/or mutation analysis of the glucose-6-phosphatase gene or glucose-6-phosphate transporter gene. The two metabolic disease units have maintained similar treatment and follow-up protocols for GSD I patients for more than 20 years: during the
Results
Ten cases and 10 controls (six males and four females in each group) screened from a population of 54 GSD I patients were included in this study. The median age at GSD I diagnosis was 8 months (range, 2–24 months) for the cases and 9 months (range, 4–204 months) for the controls. All patients were followed at the same metabolic disease unit from diagnosis through the time of this study. The groups did not differ in genotype; R83C and Q347X were the most frequent mutations in both groups. The median
Discussion
Our retrospective case–control study failed to demonstrate significant differences in metabolic balance between GSD I patients with and without adenomas. We began our study based on the clinical observation that some GSD I patients do not develop adenomas despite poor metabolic control. For example, we followed a 32-year-old patient who was diagnosed with GSD I at the age of 17 years; he was 133 cm tall and weighed 27.5 kg at the time of diagnosis. His plasma triglycerides were 2076 mg/dL; uric
References (15)
- et al.
Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia
J. Hepatol.
(2007) - et al.
Regression of hepatic adenomas in type Ia glycogen storage disease with dietary therapy
Gastroenterology
(1981) - et al.
Assessment of differentiation and progression of hepatic tumors using array-based comparative genomic hybridization
Clin. Gastroenterol. Hepatol.
(2006) Glycogen storage disease
- et al.
Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European study on glycogen storage disease type I (ESGSD I)
Eur. J. Pediatr.
(2002) - et al.
Glycogen storage disease in adult
Ann. Intern. Med.
(1994) Glycogen storage disease type I: pathophysiology of liver adenomas
Eur. J. Pediatr.
(2002)
Cited by (45)
Developmental and Inherited Liver Disease
2023, MacSween's Pathology of the Liver, Eighth EditionAbnormalities of Carbohydrate Metabolism and the Liver
2020, Pediatric Gastrointestinal and Liver Disease, Sixth EditionDevelopmental and Inherited Liver Disease
2018, MacSween's Pathology of the LiverDisorders of Carbohydrate Metabolism
2013, Emery and Rimoin's Principles and Practice of Medical GeneticsGenetic and metabolic liver disease
2012, MacSween's Pathology of the Liver