📂 Diseases
molybdenum cofactor deficiency type B — Definition
Molibden Kofaktör Eksikliği Tip B / molybdenum cofactor deficiency type B
Molybdenum cofactor deficiency type B is a rare genetic disorder that leads to dysfunction of molybdenum-containing enzymes such as sulfur oxidase, ksantin dehydrogenase and aldehit oxidase. The MOCS2 gene is caused by mutations and shows autozomal resessive transition. The disease is characterized by seizures, hypotonia, nutrition power and progressive neurological damage, starting shortly after birth. The diagnosis is put in the urine with low levels of sulfur and uric acid; treatment options are limited and most cases result in death in early childhood.
Frequently Asked Questions
❓ What is Molibden Kofaktör Eksikliği Tip B?
Molibden Kofaktör Eksikliği Tip B; molybdenum cofactor deficiency type B is a rare genetic disorder that leads to dysfunction of molybdenum-containing enzymes such as sulfur oxidase, ksantin dehydrogenase and aldehit oxidase. The MOCS2 gene is caused by mutations and shows autozomal resessive transition. The disease is characterized by seizures, hypotonia, nutrition power and progressive neurological damage, starting shortly after birth. The diagnosis is put in the urine with low levels of sulfur and uric acid; treatment options are limited and most cases result in death in early childhood.
❓ What is molybdenum cofactor deficiency type B in Turkish?
The Turkish equivalent of "molybdenum cofactor deficiency type B" is Molibden Kofaktör Eksikliği Tip B.
❓ Which medical field is Molibden Kofaktör Eksikliği Tip B related to?
This term belongs to the Diseases category.