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Type Ib glycogenosis
1Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Bangalore.
Insights
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.
- 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.
Abstract:
Type Ib glycogenosis is a rare glycogen storage disorder resulting from a defect in the enzyme, glucose-6-phosphatase microsomal translocase. We report a case of Type Ib glycogenosis in an 18 month-old male child who presented with a history of hypoglycemic seizures and recurrent infections and had a massive hepatomegaly, recurrent hypoglycemia, hyperuricemia, hypertriglyceridemia, neutropenia and fasting lactacidemia which decreased sharply on glucose administration.