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

scholarly journals New Insights into the Neuropathogenesis of Molybdenum Cofactor Deficiency

2002 ◽  
Vol 29 (1) ◽  
pp. 91-96 ◽  
Author(s):  
Michael S. Salman ◽  
Cameron Ackerley ◽  
Christof Senger ◽  
Laurence Becker
Keyword(s):  
Neurodegenerative Disorder ◽  
Male Infant ◽  
Molybdenum Cofactor ◽  
Energy Dispersive ◽  
Cytoplasmic Staining ◽  
Molybdenum Cofactor Deficiency ◽  
X Ray ◽  
Spectrometry Analysis ◽  
Sulphite Oxidase ◽  
Cofactor Deficiency

Background:Molybdenum cofactor deficiency (MOCOD) is a rare, progressive neurodegenerative disorder caused by sulphite oxidase enzyme deficiency. The neuropathological findings are consistent with a toxic insult to the brain that causes severe neuronal loss, reactive astrogliosis and spongiosis. The mechanisms responsible for these changes are unknown.Methods:The case is a male infant with MOCOD who died at nine months of age from pneumonia. At autopsy, a complete neuropathological examination was performed including conventional immunohistochemical staining. In addition, brain sections were stained cytochemically with shikata and orcein which stain for disulphide bonds. The elemental composition of cortical cells was then analyzed in the scanning electron microscope using backscatter electron imaging and energy dispersive X-ray spectrometry.Results:Neurons demonstrated cytoplasmic staining with shikata and orcein cytochemically when compared to control sections. Energy dispersive X-ray spectrometry analysis of these neurons confirmed the presence of excess sulphur and unexpectedly revealed excess magnesium accumulation. None of these findings was found in an age-matched control.Conclusions:In MOCOD we found abnormal accumulation of sulphur and magnesium in neurons. It is postulated that sulphur-containing compound(s) that are formed as a result of MOCOD cause excitotoxic neuronal injury in the presence of excess magnesium.

Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency

2012 ◽  
Vol 35 (6) ◽  
pp. 1031-1036 ◽  
Author(s):  
Philippa B. Mills ◽  
Emma J. Footitt ◽  
Serkan Ceyhan ◽  
Paula J. Waters ◽  
Cornelis Jakobs ◽  
...  
Keyword(s):  
Molybdenum Cofactor ◽  
Oxidase Deficiency ◽  
Molybdenum Cofactor Deficiency ◽  
Sulphite Oxidase ◽  
Sulphite Oxidase Deficiency ◽  
Cofactor Deficiency

Molybdenum cofactor deficiency presenting with a parkinsonism-dystonia syndrome

2013 ◽  
Vol 28 (3) ◽  
pp. 399-401 ◽  
Author(s):  
Fadi Alkufri ◽  
Tim Harrower ◽  
Yusof Rahman ◽  
Elaine Hughes ◽  
Helen Mundy ◽  
...  
Keyword(s):  
Molybdenum Cofactor ◽  
Molybdenum Cofactor Deficiency ◽  
Cofactor Deficiency

Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A

1998 ◽  
Vol 103 (6) ◽  
pp. 639-644 ◽  
Author(s):  
J. Reiss ◽  
Ernst Christensen ◽  
Gerhard Kurlemann ◽  
Marie-Therese Zabot ◽  
Claude Dorche
Keyword(s):  
Genomic Structure ◽  
Type A ◽  
Molybdenum Cofactor ◽  
Molybdenum Cofactor Deficiency ◽  
Mutational Spectrum ◽  
Deficiency Type ◽  
Cofactor Deficiency

Diagnosis of molybdenum cofactor deficiency

The Lancet ◽  
1999 ◽  
Vol 353 (9153) ◽  
pp. 675-676 ◽  
Author(s):  
William Stephen Waring ◽  
Simon Maxwell
Keyword(s):  
Molybdenum Cofactor ◽  
Molybdenum Cofactor Deficiency ◽  
Cofactor Deficiency
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