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

Orpha code: 217371OMIM code: 613070

Definition

A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterized clinically by transient, but life-threatening acute liver failure episodes.

Disease data
Classification

Disease

Synonyms
Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins
Ostra dziecięca niewydolność wątroby z powodu defektu syntezy białek kodowanych przez mitochondrialne DNA
ORPHA code
217371
OMIM code
613070
ICD10 code
E88.8
ICD11 code
-

No additional description.

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