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Obesity and reversed growth retardation in a child with type Ia glycogen storage disease

Wikrom Karnsakul1, Stacey Gillespie, Kathryn Skitarelic

  • 1Division of Pediatric Gastroenterology and Nutrition, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. wkarnsa1@jhmi.edu

Journal of Pediatric Endocrinology & Metabolism : JPEM
|July 29, 2010
PubMed

Insights

Type Ia Glycogen Storage Disease (GSD) results from glucose-6-phosphatase deficiency. A unique case highlights atypical presentation and potential links to metabolic syndrome, requiring clinical reevaluation.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Type Ia Glycogen Storage Disease (GSD) is an autosomal recessive hepatic metabolic disorder caused by glucose-6-phosphatase (G-6-Pase) deficiency.
  • It typically presents with hypoglycemia, lactic acidosis, hyperuricemia, hepatomegaly, and risk of malignancy.

Observation:

  • A case with the delF327 mutation, lacking G-6-Pase activity, exhibited an atypical clinical presentation.
  • This patient achieved normal height and developed obesity, with hepatic steatosis and low hepatic glycogen storage.

Findings:

  • Despite aggressive nutritional therapy, the patient's height was below target, and obesity developed.
  • The unusual phenotype suggests overlapping features with metabolic syndrome, potentially linked to insulin resistance from early nutritional interventions.

Implications:

  • This case underscores the need for clinical reevaluation of Type Ia GSD phenotypes, especially concerning growth and metabolic complications.
  • Understanding genotype-phenotype correlations and the impact of early nutrition is crucial for managing GSD patients and preventing comorbidities like metabolic syndrome.

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