Acute infantile liver failure-multisystemic involvement syndrome

Orpha code: 370088OMIM code: 615438

Definition

A rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.

Disease data
Classification

Disease

ORPHA code
370088
OMIM code
615438
ICD10 code
K72.0
ICD11 code
-

No additional description.

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