Molybdenum cofactor deficiency
Molybdenum cofactor deficiency is a rare human disease in which the absence of molybdopterin – and consequently its molybdenum complex, commonly called molybdenum cofactor – leads to accumulation of toxic levels of sulphite and neurological damage. Usually this leads to death within months of birth, due to the lack of active sulfite oxidase. Furthermore, a mutational block in molybdenum cofactor biosynthesis causes absence of enzyme activity of xanthine dehydrogenase/oxidase and aldehyde oxidase.
primaryTopic
Molybdenum cofactor deficiency
Molybdenum cofactor deficiency is a rare human disease in which the absence of molybdopterin – and consequently its molybdenum complex, commonly called molybdenum cofactor – leads to accumulation of toxic levels of sulphite and neurological damage. Usually this leads to death within months of birth, due to the lack of active sulfite oxidase. Furthermore, a mutational block in molybdenum cofactor biosynthesis causes absence of enzyme activity of xanthine dehydrogenase/oxidase and aldehyde oxidase.
has abstract
Die Molybdän-Cofaktor-Defizien ...... gerungen von Sulfit im Gehirn.
@de
Le déficit en cofacteur à moly ...... issant peu après la naissance.
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Molybdenum cofactor deficiency ...... /oxidase and aldehyde oxidase.
@en
Niedobór kofaktora molibdenowe ...... nowej
* oksydazy aldehydowej.
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eMedicine subject
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ped
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eMedicine topic
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2172
@en
OMIM id
ORPHA
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20,467,061
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1,010,959,495
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DiseasesDB
eMedicineSubj
ped
@en
eMedicineTopic
field
ICD
E72.1
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name
Molybdenum cofactor deficiency
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OMIM
Orphanet
synonyms
Sulfite oxidase deficiency due to molybdenum cofactor deficiency
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hypernym
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Die Molybdän-Cofaktor-Defizien ...... gerungen von Sulfit im Gehirn.
@de
Le déficit en cofacteur à moly ...... issant peu après la naissance.
@fr
Molybdenum cofactor deficiency ...... /oxidase and aldehyde oxidase.
@en
Niedobór kofaktora molibdenowe ...... grupa mutacji powodujących nie
@pl
label
Déficit en cofacteur à molybdène
@fr
Molybdenum cofactor deficiency
@en
Molybdän-Cofaktor-Defizienz
@de
Niedobór kofaktora molibdenowego
@pl
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name
Molybdenum cofactor deficiency
@en