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Central nervous involvement is common in PGM1-CDG.

Silvia Radenkovic1, Peter Witters2, Eva Morava3

  • 1Metabolomics Expertise Center, Center for Cancer Biology, CCB-VIB, Leuven, Belgium; Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Ageing, KU Leuven, Leuven, Belgium; Department of Oncology, KU Leuven, Leuven, Belgium.

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Phosphoglucomutase 1 (PGM1) deficiency can cause neurological symptoms, even without hypoglycemia. Early central nervous system assessment is crucial for PGM1-Congenital disorder of glycosylation patients to improve outcomes.

Keywords:
CDGCentral nervous systemDevelopmental delayGlycosylationHypoglycemiaIntellectual disabilityPhosphoglucomutase 1Seizures

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Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Phosphoglucomutase 1 (PGM1) deficiency is linked to glycosylation issues.
  • Clinical manifestations include malformations, hypoglycemia, and organopathies.
  • Previously, central nervous system (CNS) involvement was not recognized in PGM1 deficiency.

Purpose of the Study:

  • To investigate the frequency and nature of neurological involvement in PGM1 deficiency.
  • To determine if CNS symptoms occur independently of hypoglycemia.
  • To inform early diagnostic and management strategies for PGM1-CDG.

Main Methods:

  • Systematic review of reported PGM1-deficient patients.
  • Analysis of clinical data, including neurological status, hypoglycemia history, and treatment.
  • Identification of cases with significant neurological involvement.

Main Results:

  • 17 out of 41 reported PGM1-CDG cases exhibited significant neurological involvement.
  • Neurological symptoms were present in patients with and without severe hypoglycemia.
  • One patient presented with neurological symptoms and no reported hypoglycemia.

Conclusions:

  • Neurological symptoms are a frequent feature of PGM1-CDG.
  • CNS involvement can occur even in the absence of hypoglycemia.
  • Early neurological assessment is recommended for PGM1-CDG patients to optimize outcomes.