Molybdenum cofactor deficiency

> Literature review

Molybdenum cofactor deficiency (MoCD) is caused by a deficiency of enzymes required for the formation of molybdenun cofactor. MoCD has a large clinical overlap with primary sulfite oxidase deficiency, only being differentiated biochemically (Elevation of urinary Xanthine and Hypoxanthine and low serum uric acid levels). Patients present in the first few days of life. Patients with MoCD type A (MOCS1 mutation) may respond to treatment with cyclic pyranopterin monophosphate. A "strip test" used to assess for sulfites in wine and fruit juices can by used to assess for urinary sulfites.

On imaging patients presenting as a neonate show decreased T1, restricted diffusion, and increased T2 and FLAIR of the cortex/subcortical white matter and basal ganglia. Patients may have cystic changes of these structures reflecting the prenatal onset of injury.