Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency

Rare, hereditary, mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.

13 clinical trials for this condition and its sub-types, 0 tagged with Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency itself.