combined oxidative phosphorylation defect type 21

Rare Disease

MONDO:0014398

Also Known As

COXPD21TARS2 combined oxidative phosphorylation deficiencycombined oxidative phosphorylation deficiency caused by mutation in TARS2combined oxidative phosphorylation deficiency type 21combined oxidative phosphorylation deficiency 21

Definition

Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.