GTR Home > Conditions/Phenotypes > Molybdenum cofactor deficiency, complementation group B


Molybdenum cofactor deficiency is a rare autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood (summary by Reiss et al., 1999). For a general phenotypic description and a discussion of genetic heterogeneity of MOCOD, see MOCODA (252150), which is clinically indistinguishable from MOCODB. [from OMIM]

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15 tests are in the database for this condition.

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  • Also known as: MCBPE, MOCO1, MOCODB, MPTS, MOCS2
    Summary: molybdenum cofactor synthesis 2

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