Transient infantile hypertriglyceridemia and hepatosteatosis

Orpha code: 300293OMIM code: 614480

Definition

Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.

Disease data
Classification

Disease

Synonyms
Transient infantile hypertriglyceridemia and fatty liver
Transient infantile hypertriglyceridemia and fatty liver
ORPHA code
300293
OMIM code
614480
ICD10 code
K76.0
ICD11 code
-

No additional description.

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