acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
LFIT
exact
TRMU infantile liver failure
exact
acute infantile liver failure
broad
acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins
exact
acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
exact
infantile liver failure caused by mutation in TRMU
exact
liver failure, infantile, transient
exact
liver failure, transient infantile
exact
transient infantile liver failure
exact
Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.
MONDO:0000023
infantile liver failure
is_a
MONDO:0016387
mitochondrial oxidative phosphorylation disorder
is_a
MONDO:0019542
acute liver failure
is_a
SPAC23H4.04