📂 Diseases
molybdenum cofactor deficiency — Definition
Molibden kofaktör eksikliği / molybdenum cofactor deficiency
Molybdenum cofactor deficiency is a rare genetic disease that occurs as the result of not synthesized molybdenum cophanector, which is necessary for function of molybdenum-dependent enzymes such as sulfide oxide, ksantin dehydrogenase and aldehit oxidase. This condition is characterized by untreated seizures, nutrition power and serious neurological rewinding, starting shortly after birth. The disease manifests itself with the findings of encephalopathy and dysmorphic face, which is rapidly progressing in the period of babyhood. Otozomal resesif inherited in this disorder, the diagnosis is smeared in the urine and presented to the accumulation of thiosulfate.
Frequently Asked Questions
❓ What is Molibden kofaktör eksikliği?
Molibden kofaktör eksikliği; molybdenum cofactor deficiency is a rare genetic disease that occurs as the result of not synthesized molybdenum cophanector, which is necessary for function of molybdenum-dependent enzymes such as sulfide oxide, ksantin dehydrogenase and aldehit oxidase. This condition is characterized by untreated seizures, nutrition power and serious neurological rewinding, starting shortly after birth. The disease manifests itself with the findings of encephalopathy and dysmorphic face, which is rapidly progressing in the period of babyhood. Otozomal resesif inherited in this disorder, the diagnosis is smeared in the urine and presented to the accumulation of thiosulfate.
❓ What is molybdenum cofactor deficiency in Turkish?
The Turkish equivalent of "molybdenum cofactor deficiency" is Molibden kofaktör eksikliği.
❓ Which medical field is Molibden kofaktör eksikliği related to?
This term belongs to the Diseases category.