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Neurological Characteristics of Pediatric Glycogen Storage Disease

Julio Henrique Muzetti1,2,3, Daniel Almeida do Valle1,2,3, Mara L S Ferreira Santos3

  • 1Faculdades Pequeno Príncipe, Curitiba, Brazil.

Frontiers in Endocrinology
|June 7, 2021
PubMed

Insights

This study investigated glycogen storage diseases (GSD) in children, finding that inadequate metabolic control, particularly hypoglycemia, significantly impacts neurological health. GSD type I showed more frequent brain abnormalities than GSD type IX.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Glycogen storage diseases (GSD) are rare inherited metabolic disorders affecting glycogen metabolism.
  • Hypoglycemia is a common GSD manifestation, potentially leading to neurological damage.

Purpose of the Study:

  • To investigate the metabolic, genetic, and neurological profiles of children with GSD.
  • To compare the neurological impact of GSD type I versus GSD type IX.

Main Methods:

  • Cross-sectional study of 12 children with GSD (Types Ia, Ib, IXa, IXb).
  • Multigene panel analysis for genetic testing.
  • Evaluation of biochemical data and brain MRI, assessing metabolic control against established criteria.

Main Results:

  • Adequate metabolic control was achieved in 67% of patients (GSD I: 43%, GSD IX: 100%).
  • Fourteen mutations were detected, including six previously unreported variants (5 in PHKA2, 1 in PHKB).
  • Brain imaging abnormalities were more common in GSD I, associated with early onset, longer hospitalization, and poor metabolic control.

Conclusions:

  • Inadequate metabolic control, especially hypoglycemia, is the primary driver of neurological impact in GSD.
  • The study identified novel GSD variants and highlighted the neurological consequences of GSD I.

Keywords:
brain injurycentral nervous systemglucose-6-phosphatase deficiencyglycogen storage diseasehypoglycemiamutationphosphorylase kinase deficiency

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