title: Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency.
abstract: 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 transversion that predicts a valine to phenylalanine substitution, V7F, on the second. It is postulated that the milder clinical symptoms result from a low level of residual molybdopterin synthase activity derived from the 19G > T allele.
authors.affiliation: Department of Biochemistry, Duke University Medical Center, Durham, North Carolina 27710, USA. jean_johnson@biochem.duke.edu
authors.forename: J L
authors.initials: JL
authors.lastname: Johnson
authors.forename: K E
authors.initials: KE
authors.lastname: Coyne
authors.forename: K V
authors.initials: KV
authors.lastname: Rajagopalan
authors.forename: J L
authors.initials: JL
authors.lastname: Van Hove
authors.forename: M
authors.initials: M
authors.lastname: Mackay
authors.forename: J
authors.initials: J
authors.lastname: Pitt
authors.forename: A
authors.initials: A
authors.lastname: Boneh
mesh_terms: D000483:Alleles; D001483:Base Sequence; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D003067:Coenzymes; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000378:metabolism; D005091:Exons; D005260:Female; D005973:Glutamine / Q000737:chemistry; D006579:Heterozygote; D006801:Humans; D007438:Introns; D008279:Magnetic Resonance Imaging; D008667:Metalloproteins / Q000172:deficiency*; D008956:Models, Chemical; D008969:Molecular Sequence Data; D000090006:Molybdenum Cofactors; D009154:Mutation; D010649:Phenylalanine / Q000737:chemistry; D011621:Pteridines; D013466:Sulfurtransferases / Q000235:genetics*
chemical_list: D003067:Coenzymes; D018076:DNA, Complementary; D005973:Glutamine; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D010649:Phenylalanine; D011621:Pteridines; D013466:Sulfurtransferases; C022261:molybdopterin; C085585:molybdopterin synthase