Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive disorder associated with a high mortality rate. We report a genetically confirmed MOCOD case of a Sri Lankan infant girl born to a consanguineous family, who presented with refractory neonatal seizures, respiratory distress, and the appearance of global cerebral ischemia on the CT brain. Biochemical investigations revealed hypouricemia, hypouricosuria, and increased urinary xanthine. Genetic analysis revealed a homozygous novel pathogenic variant in the MOCS1 gene, consistent with MOCOD.
ReissJ, HahnewaldR.Molybdenum cofactor deficiency: mutations in GPHN, MOCS1, and MOCS2. Hum Mutat. 2011;32(1):10–18. https://doi.org/10.1002/humu.21390.
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SchwahnBC, Van SpronsenFJ, BelaidiAA, . Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study. Lancet. 2015Nov14;386(10007):1955–1963. doi: 10.1016/S0140-6736(15)00124-00125. Epub 2015 Sep 3. PMID: 26343839.
