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.
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Authors | J L Johnson, K E Coyne, K V Rajagopalan, J L Van Hove, M Mackay, J Pitt, A Boneh |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 104
Issue 2
Pg. 169-73
(Nov 22 2001)
ISSN: 0148-7299 [Print] United States |
PMID | 11746050
(Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)
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Copyright | Copyright 2001 Wiley-Liss, Inc. |
Chemical References |
- Coenzymes
- DNA, Complementary
- Metalloproteins
- Molybdenum Cofactors
- Pteridines
- Glutamine
- Phenylalanine
- molybdenum cofactor
- Sulfurtransferases
- molybdopterin synthase
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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)
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