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Transient infantile hypertriglyceridemia with jaundice: A case report
Jun Wang1, Fang Sun2, Pengfei Xu1
1Second Department of Infectious Diseases.
Medicine
|April 28, 2021
Summary
Transient infantile hypertriglyceridemia (HTGTI) is a rare genetic disorder. This case report highlights jaundice as a potential new symptom and expands the known mutations for glycerol-3-phosphate dehydrogenase 1.
Area of Science:
- Genetics
- Metabolic Disorders
- Pediatrics
Background:
- Transient infantile hypertriglyceridemia (HTGTI) is a rare autosomal recessive disorder.
- It results from inactivating mutations in the glycerol-3-phosphate dehydrogenase 1 gene.
- Limited cases and unclear pathogenesis necessitate further research.
Observation:
- A 1-month-old infant presented with persistent jaundice and hepatomegaly.
- The infant was diagnosed with HTGTI and a novel glycerol-3-phosphate dehydrogenase 1 mutation.
Findings:
- Jaundice resolved by 4 months.
- Hypertriglyceridemia normalized by 13 months.
- Elevated transaminases and hepatic steatosis persisted.
Implications:
- Jaundice may represent a novel clinical manifestation of HTGTI.
- This case expands the known mutation spectrum and clinical features of HTGTI.
- Further studies are needed to elucidate the pathogenesis and long-term outcomes.
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