Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Johnson, JL; Coyne, KE; Rajagopalan, KV; Van Hove, JL; Mackay, M; Pitt, J; Boneh, A

Published Date

  • November 22, 2001

Published In

Volume / Issue

  • 104 / 2

Start / End Page

  • 169 - 173

PubMed ID

  • 11746050

International Standard Serial Number (ISSN)

  • 0148-7299

Digital Object Identifier (DOI)

  • 10.1002/1096-8628(20011122)104:2<169::aid-ajmg1603>;2-8


  • eng

Conference Location

  • United States