Absence of hepatic molybdenum cofactor: An inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase

1983 ◽  
Vol 6 (S1) ◽  
pp. 78-83 ◽  
Author(s):  
S. K. Wadman ◽  
M. Duran ◽  
F. A. Beemer ◽  
B. P. Cats ◽  
J. L. Johnson ◽  
...  
Keyword(s):  
Inborn Error ◽  
Xanthine Dehydrogenase ◽  
Molybdenum Cofactor ◽  
Inborn Error Of Metabolism ◽  
Sulphite Oxidase ◽  
Combined 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.

Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor

1996 ◽  
Vol 19 (5) ◽  
pp. 700-701 ◽  
Author(s):  
E. Bonioli ◽  
A. DiStefano ◽  
A. Palmieri ◽  
A. Bertola ◽  
C. Bellini ◽  
...  
Keyword(s):  
Xanthine Oxidase ◽  
Molybdenum Cofactor ◽  
Sulphite Oxidase ◽  
Combined Deficiency

Neuropathological findings in a case of combined deficiency of sulphite oxidase and xanthine dehydrogenase

1985 ◽  
Vol 408 (1) ◽  
pp. 105-106 ◽  
Author(s):  
P. G. Barth ◽  
F. A. Beemer ◽  
B. P. Cats ◽  
M. Duran ◽  
S. K. Wadman
Keyword(s):  
Xanthine Dehydrogenase ◽  
Sulphite Oxidase ◽  
Combined Deficiency

Protonation and Sulfido versus Oxo Ligation Changes at the Molybdenum Cofactor in Xanthine Dehydrogenase (XDH) Variants Studied by X-ray Absorption Spectroscopy

2017 ◽  
Vol 56 (4) ◽  
pp. 2165-2176 ◽  
Author(s):  
Stefan Reschke ◽  
Stefan Mebs ◽  
Kajsa G. V. Sigfridsson-Clauss ◽  
Ramona Kositzki ◽  
Silke Leimkühler ◽  
...  
Keyword(s):  
Absorption Spectroscopy ◽  
Xanthine Dehydrogenase ◽  
Molybdenum Cofactor ◽  
X Ray ◽  
X Ray Absorption
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