Clinical and laboratory characteristics of hepatic - type glycogenosis in children at Vietnam National Children Hospital, 2014 - 2025
Main Article Content
Abstract
This study aimed to describe the clinical and laboratory characteristics of hepatic-type glycogen storage disease (GSD) in children at the National Children’s Hospital from 2014 to 2025. A descriptive study was conducted on 88 children with hepatic-type glycogen storage disease. The results showed a male-to-female ratio of 61/27. The median age at diagnosis was 2.5 years old (IQR: 1.5 - 3.8). The most common types included GSD IX (32.9%), GSD VI (30.7%), and GSD III (15.9%). Typical clinical manifestations consisted of hepatomegaly (94.3%) and growth retardation (18.2%). The main laboratory abnormalities included elevated AST levels (98.9%), elevated ALT levels (100%), elevated LDH levels (81.4%), elevated lactate levels (71.8%), elevated uric acid levels (69%), elevated triglyceride levels (48.3%), elevated cholesterol levels (27.9%), and hypoglycemia (27.9%). Ultrasound findings revealed hepatomegaly in 95.5% of patients and splenomegaly in 6.8%. Histopathology was characterized by swollen hepatocytes with clear cytoplasm and positive PAS staining.
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Keywords
Glycogen storage disease, Hepatic glycogenosis, Inborn errors of metabolism, Children
References
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