Catalog

Cardioencephalopathy with hyperammonaemia

No MMS code

Link to WHO Definition

Cardioencephalopathy with hyperammonaemia – http://id.who.int/icd/entity/787034237

Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is an oxidative phosphorylation disease characterised by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apnoeic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.