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GENATLAS PHENOTYPE

last update : 21-12-2012

Symbol	AILF
Location	22q13.31
Name	acute infantile liver failure
Other name(s)	liver failure, transient infantile
Corresponding gene	TRMU
Other symbol(s)	LFIT
Main clinical features	associated with lactic acidemia and normal mtDNA content poor feeding, vomiting, jaundice, distended abdomen, hemorrhagic diathesis, irritability, and hypoactivity with elevated liver transaminases, hypoglycemia, coagulopathy, hyperammonemia, and direct hyperbilirubinemia in liver obtained during the acute phase, the activities of complexes I, III, and IV normalized to citrate synthase activity were markedly reduced; only complex II activity was relatively preserved also cases of acute infantile liver failure with a reversible outcome (PMID: 21890497))
Genetic determination	autosomal recessive
Related entries	including cases of reversible infantile respiratory chain deficiency (OMIM 500009)
Function/system disorder	digestive tract/gastrointestinal
Type	disease

Remark(s)

during 1–4 months of age, patients with TRMU mutations are at an increased risk of developing liver failure; dietary- and metallothionein-derived cysteine may provide some protection during the first month of life (Zeharia 2009)