Infantile extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia: A case report - PubMed
4 hours ago
- #hypertriglyceridemia
- #glycogen storage disease
- #pediatric case report
- A 5-month-old girl presented with poor appetite, growth retardation, hepatomegaly, and extreme hypertriglyceridemia (72 mmol/L).
- Initial differentials included familial hypertriglyceridemia, but whole-exome sequencing confirmed GSD Ia with compound heterozygous G6PC mutations.
- Initial treatment included lipid-lowering measures (low-fat diet, fenofibrate, omega-3, plasma exchange).
- Post-diagnosis, she received lactose-free formula with frequent feeds and nocturnal nutrition; uncooked cornstarch was introduced at 6 months.
- Metabolic control was unstable until age 2 due to poor adherence to treatment.
- After 24 months of structured cornstarch therapy, fasting glucose normalized, triglycerides decreased, and catch-up growth occurred.
- GSD Ia should be considered in infantile extreme hypertriglyceridemia with growth retardation, even without classic hypoglycemia.