HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

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.
AuthorsJ L Johnson, K E Coyne, K V Rajagopalan, J L Van Hove, M Mackay, J Pitt, A Boneh
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 104 Issue 2 Pg. 169-73 (Nov 22 2001) ISSN: 0148-7299 [Print] United States
PMID11746050 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)
CopyrightCopyright 2001 Wiley-Liss, Inc.
Chemical References
  • Coenzymes
  • DNA, Complementary
  • Metalloproteins
  • Molybdenum Cofactors
  • Pteridines
  • Glutamine
  • Phenylalanine
  • molybdenum cofactor
  • Sulfurtransferases
  • molybdopterin synthase
Topics
  • Alleles
  • Base Sequence
  • Brain (pathology)
  • Child, Preschool
  • Coenzymes
  • DNA Mutational Analysis
  • DNA, Complementary (metabolism)
  • Exons
  • Female
  • Glutamine (chemistry)
  • Heterozygote
  • Humans
  • Introns
  • Magnetic Resonance Imaging
  • Metalloproteins (deficiency)
  • Models, Chemical
  • Molecular Sequence Data
  • Molybdenum Cofactors
  • Mutation
  • Phenylalanine (chemistry)
  • Pteridines
  • Sulfurtransferases (genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: