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

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description A transient disorder of hepatic function characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, increased serum lactate. Patients who survive the initial acute episode can recover, show normal development and have no recurrence.
Mondo Term and Equivalent IDs
MONDO:0013111:  acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GARD:0010593: 
Orphanet:217371: 
UMLS:C3278664: