Conditions / Genetic
combined oxidative phosphorylation deficiency 39
info · Genetic
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13.3.
Signs and symptoms
- Cerebellar atrophy
- Elevated brain lactate level by MRS
- Reduced brain N-acetyl aspartate level by MRS
- Type I diabetes mellitus
- Reduced eye contact
- Sinus bradycardia
- Microcephaly
- Feeding difficulties
- Decreased activity of mitochondrial complex III
- Congenital contracture
Also known as: COXPD39