Conditions / Genetic
combined oxidative phosphorylation deficiency 19
info · Genetic
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1.
Signs and symptoms
- Stridor
- Failure to thrive
- Lacticaciduria
- Metabolic acidosis
- Lactic acidosis
- Respiratory distress
- Poor head control
- Mitochondrial swelling
- Hypotonia
- Elevated brain lactate level by MRS
Also known as: COXPD19; severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency