Molybdenum Cofactor Deficiency with a Novel Pathogenic Variant in the Molybdenum Cofactor Synthesis 1 (MOCS1): A Case Report

Abstract

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.