Hypotonia with lactic acidemia and hyperammonemia
ORPHA:137908· ICD-10 E88.8
Definition
This syndrome is characterized by severe hypotonia, lactic acidemia and congenital hyperammonaemia.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal