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Type Ib glycogenosis.

R Christopher1, K T Shetty

  • 1Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Bangalore.

Indian Journal of Pediatrics
|July 1, 1997
PubMed
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Type Ib glycogenosis, a rare metabolic disorder, stems from glucose-6-phosphatase microsomal translocase defects. This case highlights key clinical and biochemical features in an affected child.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Type Ib glycogenosis is a rare inherited metabolic disorder.
  • It is caused by mutations in the SLC37A4 gene, affecting glucose-6-phosphatase microsomal translocase activity.
  • This enzyme is crucial for glucose release from the liver.

Observation:

  • An 18-month-old male presented with hypoglycemic seizures and recurrent infections.
  • Clinical examination revealed massive hepatomegaly, recurrent hypoglycemia, hyperuricemia, hypertriglyceridemia, and neutropenia.
  • Fasting lactacidemia was noted, which improved significantly after glucose administration.

Findings:

  • The patient's presentation and laboratory findings are consistent with Type Ib glycogenosis.
  • The defect in glucose-6-phosphatase microsomal translocase leads to impaired glucose release and accumulation of glycogen.

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  • The observed metabolic derangements, including neutropenia and lactic acidosis, are characteristic of this condition.

    • Implications:

    • This case underscores the importance of early diagnosis and management of Type Ib glycogenosis.
    • Prompt glucose administration is vital for managing hypoglycemia and preventing seizures.
    • Further research into therapeutic strategies for Type Ib glycogenosis is warranted to improve patient outcomes.