Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency

2003 ◽  
Vol 23 (1) ◽  
pp. 6-8 ◽  
Author(s):  
Jean L. Johnson
Keyword(s):  
Prenatal Diagnosis ◽  
Sulfite Oxidase ◽  
Molybdenum Cofactor ◽  
Oxidase Deficiency ◽  
Molybdenum Cofactor Deficiency ◽  
Sulfite Oxidase Deficiency ◽  
Cofactor Deficiency

Molybdenum Cofactor Deficiency: Another Inborn Error of Metabolism With Neonatal Onset

PEDIATRICS ◽  
1988 ◽  
Vol 82 (3) ◽  
pp. 521-521
Author(s):  
BARBARA K. BURTON
Keyword(s):  
Inborn Error ◽  
Molybdenum Cofactor ◽  
Inborn Error Of Metabolism ◽  
Inborn Errors ◽  
Oxidase Deficiency ◽  
Ectopia Lentis ◽  
Molybdenum Cofactor Deficiency ◽  
Sulfite Oxidase Deficiency ◽  
Eye Examination ◽  
Cofactor Deficiency

In Reply.— Matsuo and co-workers correctly point out that molybdenum cofactor deficiency may present in the neonatal period and, therefore, add yet another disorder to the list of inborn errors of metabolism affecting the neonate. Hypouricemia may be a clue, as noted, and ectopia lentis, as seen in isolated sulfite oxidase deficiency, is an additional important finding. The importance of a careful eye examination in infants suspected of having an inborn error of metabolism is again emphasized.

Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples

1991 ◽  
Vol 14 (6) ◽  
pp. 932-937 ◽  
Author(s):  
J. L. Johnson ◽  
K. V. Rajagopalan ◽  
J. T. Lanman ◽  
R. B. H. Schutgens ◽  
A. H. van Gennip ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Oxidase Activity ◽  
Chorionic Villus ◽  
Molybdenum Cofactor ◽  
Molybdenum Cofactor Deficiency ◽  
Sulphite Oxidase ◽  
Cofactor Deficiency

Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis

2002 ◽  
Vol 22 (5) ◽  
pp. 433-436 ◽  
Author(s):  
J. L. Johnson ◽  
K. V. Rajagopalan ◽  
W. O. Renier ◽  
I. Van der Burgt ◽  
W. Ruitenbeek
Keyword(s):  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Sulfite Oxidase ◽  
Oxidase Deficiency ◽  
Sulfite Oxidase Deficiency
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