Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
ORPHA:217371· ICD-10 E88.8
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal