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Biochemical Titration of Glycogen In vitro
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Case Report: Glycogen Storage Disease Type Ia in a Chinese Child Treated With Growth Hormone

Shimin Wu1, Shusen Guo1, Lina Fu1

  • 1Department of Pediatrics, Tongji Medical College, Tongji Hospital, Huazhong University of Science and Technology, Wuhan, China.

Frontiers in Pediatrics
|July 5, 2022
PubMed

Insights

Glycogen storage disease type Ia (GSD Ia) is a rare metabolic disorder. Growth hormone treatment safely increased height in a GSD Ia patient with compound heterozygous G6PC mutations.

Area of Science:

  • Pediatric Endocrinology
  • Metabolic Disorders
  • Genetic Diagnosis

Background:

  • Glycogen storage disease type Ia (GSD Ia) is a rare inherited metabolic disorder.
  • It causes excessive glycogen and fat accumulation, leading to hepatomegaly, hypoglycemia, and growth retardation.
  • Early diagnosis and management are crucial for affected individuals.

Observation:

  • A 10-year-old boy presented with severe growth retardation.
  • Whole exome sequencing identified compound heterozygous mutations in the G6PC gene, confirming GSD Ia.
  • The patient exhibited low IGF-1 levels and a history of metabolic derangements.

Findings:

  • Growth hormone (GH) therapy combined with corn starch treatment resulted in a significant height increase of 13 cm over 14 months.
  • Serum IGF-1 levels normalized post-treatment.
  • While height improved, lipid levels and liver function showed no significant changes.

Implications:

  • Whole exome sequencing is vital for the early and accurate diagnosis of GSD Ia.
  • Growth hormone treatment appears to be a safe and effective therapeutic option for improving linear growth in GSD Ia patients.
  • This case highlights the potential benefits of targeted therapies for rare metabolic disorders.
Abstract

Keywords:
G6PC geneGSD Iacompound heterozygous variantgrowth hormone treatmentgrowth retardation

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