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[Present-day status of glycogenosis Ib. Report of a new case]
V Morena Hinojosas1, A Fullana Montoro, J Alvarez-Coca González
1Servicio de Endocrinología Pediátrica, Hospital Infantil La Paz, Madrid.
Insights
Glycogen storage disease type Ib (GSD-Ib) in infants presents with severe metabolic issues and neutropenia. Early nutritional intervention, including continuous enteral feeding, significantly improves symptoms and metabolic control in affected children.
Area of Science:
- Biochemistry
- Pediatrics
- Genetics
Background:
- Glycogen storage disease type I (GSD-I) encompasses a group of inherited metabolic disorders affecting glycogen metabolism.
- GSD-I is characterized by the inability to release glucose from glycogen stores, leading to hypoglycemia and metabolic derangements.
Observation:
- A four-month-old boy presented with hepatomegaly, lactic acidosis, fasting hypoglycemia, failure to thrive, recurrent infections, and cyclic neutropenia.
- Impaired immunoglobulin levels and neutrophil chemotaxis were noted.
- Liver biopsy revealed increased glycogen in hepatocytes, with normal activity of key glycogenolytic enzymes, including glucose-6-phosphatase.
Findings:
- The clinical and biochemical profile, particularly the normal enzyme activity in the liver, pointed towards a diagnosis of GSD-Ib.
- Nutritional management, initially continuous enteral feeding and later combined daytime meals with nighttime enteral feeding, effectively resolved hypoglycemia and other metabolic abnormalities.
Implications:
- This case highlights the importance of considering GSD-Ib in infants with unexplained hypoglycemia, hepatomegaly, and neutropenia.
- Aggressive nutritional support is crucial for managing the metabolic complications of GSD-Ib.
- Further research into the specific enzyme deficiencies and genetic basis of GSD-Ib is warranted.
Abstract:
A four-month-old boy affected by glycogen storage disease type I is presented. The child suffered from hepatomegaly, lactic acidosis, fasting hypoglycemia and failure to thrive. He had repeated infectious and cyclic neutropenia. Immunoglobulin and chemotactic neutrophil motility was impaired. Liver biopsy showed increased amounts of glycogen in hepatic cells as assessed by morphological and biochemical grounds. The activity of glucose-6-phosphatase as well as other glycogenolytic enzymes was normal in the frozen liver. The aforementioned characteristics suggested the diagnosis of glycogen storage disease type Ib. The child was first treated by enteral continuous feeding and later on by frequent meals during the daytime and enteral continuous feeding during the night time, improving the hypoglycemia as well as the other biochemical and metabolic abnormalities.