Disease

Molybdenum cofactor deficiency A1, 2, 3

Gene

MOCS1

Inheritance AR
Current Treatments cyclic pyranopterin monophosphate (fosdenopterin)
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test urinary xanthine, uric acid, S-sulfocysteine, sulfite, thiosulfate and plasma uric acid4
Disease Frequency (per 100,000) 0.4955, 6
Genes Included in Disease Frequency MOCS1, MOCS2, MOCS3 and GPHN cause molybdenum cofactor deficiency (2/3 of molybdenum cofactor deficiency cases are due to MOSC1. There is no treatment for molybdenum cofactor deficiency due to the other 3 genes)
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Molybdenum&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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