Article
Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency.
American journal of medical genetics - 22 Nov 2001
Johnson J L, Coyne K E, Rajagopalan K V, Van Hove J L, Mackay M, Pitt J, Boneh A
Abstract excerpt
Molybdenum cofactor deficiency is a rare inborn error of metabolism with generally severe symptoms, most often including neonatal seizures and severe developmental delay. We describe a patient with an unusually mild form of the disease. Two mutations in MOCS2A (molybdenum cofactor synthesis enzyme 2A) were identified: a single base change, 16C > T, that predicts a Q6X substitution on one allele and a 19G > T...
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