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Transient infantile hypertriglyceridemia with jaundice: A case report
Jun Wang1, Fang Sun2, Pengfei Xu1
1Second Department of Infectious Diseases.
Insights
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.
Rationale:
Transient infantile hypertriglyceridemia (HTGTI) is a rare autosomal recessive inherited disease caused by inactivating mutations in the glycerol-3-phosphate dehydrogenase 1 gene. To date, only a few patients have been reported worldwide. The symptoms of the affected individuals present a certain degree of transient hypertriglyceridemia, hepatomegaly, elevated liver enzymes, persistent fatty liver and hepatic fibrosis in early infancy. However, the clinical characteristics and pathogenesis of this disease are remain unclear.
Patient Concerns:
A one month and twenty-five days old girl was admitted to hospital because of persisted jaundice and hepatomegaly for fifty days.
Diagnose:
The girl was diagnosed with HTGTI coincident with a noval mutation in glycerol-3-phosphate dehydrogenase 1.
Intervention:
She was advised to take low-fat diet and supplement of medium-chain fatty acids.
Outcomes:
Her jaundice was gradually normal at the age of 4 months without any treatment, and hypertriglyceridemia were normal at the age of 13 months, but still had elevated transaminases and hepatic steatosis.
Lessons:
Jaundice may be a novel phenotype in HTGTI. The report contributes to the expansion of HTGTI's gene mutation spectrum and its clinical manifestations.
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