Conditions / Genetic
combined oxidative phosphorylation deficiency 52
info · Genetic
A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chro
A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11.
Signs and symptoms
- Lethargy
- Hepatic steatosis
- Elevated circulating creatine kinase activity
- Aminoaciduria
- Hypotonia
- Elevated circulating alanine aminotransferase concentration
- Metabolic acidosis
- Anorexia
- Elevated circulating aspartate aminotransferase concentration
- Hyperglycinemia
Also known as: COXPD52