acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
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
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
SPAC23H4.04