Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency

Definition

Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is a 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.

Disease data

Classification

Disease

ORPHA code

397593

OMIM code

615595

ICD10 code

E88.8

ICD11 code

*Soruce