Abstract
Molybdenum cofactor deficiency type B (MOCODB, #252160) is a rare
autosomal recessive metabolic disorder characterized by intractable
seizures of neonatal-onset, muscular spasticity, accompanying with
hypouricemia, elevated urinary sulfite levels and craniofacial
dysmorphism. Thirty-five patients were reported to date. Our paper aimed
to delineate the disease genotype by presenting another patient, in whom
novel, inframe variant within the MOCS2 gene was identified. Its
clinical significance was supported by the medical history and analysis
of the possible mutation consequences on a molecular level with the use
of the available crystal structure of the human molybdopterin synthase
complex. Moreover, potential pathomechanism resulting from molecular
defect was presented, giving original insight into current knowledge on
this rare disease, including treatment options.