combined oxidative phosphorylation deficiency 6

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1.

Signs and symptoms

Hypotonia
Muscle weakness
Ragged-red muscle fibers
Increased circulating pyruvate concentration
Developmental regression
Increased circulating lactate concentration
Global developmental delay
Areflexia
Increased CSF lactate
Seizure

Also known as: COXPD6; Mitochondrial encephalomyopathy due to COXPD6; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6; severe X-linked mitochondrial encephalomyopathy