Molybdenum cofactor deficiency type A

Molybdenum cofactor deficiency type A is an ultra-rare, autosomal recessive inborn error of metabolism caused by pathogenic variants in the *MOCS1* gene

Molybdenum cofactor deficiency type A is an ultra-rare, autosomal recessive inborn error of metabolism caused by pathogenic variants in the *MOCS1* gene Typically presenting within the first days of life, it predominantly affects neonates and infants, manifesting clinically with rapidly progressive encephalopathy, intractable seizures, hypertonia or dystonia, severe feeding difficulties, and profound global neurodevelopmental delays

This mutation disrupts the initial step of molybdenum cofactor biosynthesis, specifically preventing the synthesis of cyclic pyranopterin monophosphate (cPMP) and leading to the loss of dependent enzymatic activities, most critically sulfite oxidase The resulting metabolic block drives the neurotoxic accumulation of sulfite and S-sulfocysteine, which triggers profound neuronal injury, brain atrophy, and secondary hypouricemia Typically presenting within the first days of life, it predominantly a...

This mutation disrupts the initial step of molybdenum cofactor biosynthesis, specifically preventing the synthesis of cyclic pyranopterin monophosphate (cPMP) and leading to the loss of dependent enzymatic activities, most critically sulfite oxidase

The resulting metabolic block drives the neurotoxic accumulation of sulfite and S-sulfocysteine, which triggers profound neuronal injury, brain atrophy, and secondary hypouricemia

Typically presenting within the first days of life, it predominantly affects neonates and infants, manifesting clinically with rapidly progressive encephalopathy, intractable seizures, hypertonia or dystonia, severe feeding difficulties, and profound global neurodevelopmental delays