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An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
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Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient

Nina Ondruskova1, Tomas Honzik1, Alzbeta Vondrackova1

  • 1Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.

Neuro Endocrinology Letters
|June 1, 2014
PubMed

Insights

This study identifies the first Czech patient with phosphoglucomutase 1 deficiency (PGM1-CDG), a rare congenital disorder of glycosylation. The patient presented with unique neurological symptoms, and a lactose-rich diet showed no improvement.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Congenital disorders of glycosylation (CDG) are a group of rare genetic diseases affecting protein modification.
  • Phosphoglucomutase 1 (PGM1) deficiency is a specific type of CDG impacting N-glycosylation pathways.

Observation:

  • A 10-year-old boy presented with a complex multi-systemic phenotype including cleft palate, hepatopathy, myopathy, and intellectual disability.
  • Biochemical analysis revealed abnormal transferrin sialylation and severely reduced PGM1 enzyme activity in fibroblasts.

Findings:

  • Genetic analysis identified two novel heterozygous missense mutations in the PGM1 gene.
  • The patient exhibited a distinct clinical presentation without dilated cardiomyopathy but with mild neurological impairment, expanding the known PGM1-CDG phenotype.

Implications:

  • This case expands the phenotypic spectrum of PGM1-CDG, highlighting neurological involvement as a potential feature.
  • The lack of response to a lactose-rich diet suggests variability in therapeutic approaches for PGM1-CDG patients.
Abstract

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