📂 Diseases
methylmalonic acidemia with homocystinuria, type cblJ — Definition
Homosistinürili metilmalonik asidemi, cblJ tipi / methylmalonic acidemia with homocystinuria, type cblJ
cblJ type homosistinide methylmalonic asidemi is a hereditary disease with autozomal resessive passage, which occurs as a result of a defect in the cell intracellular metabolism of vitamin B12. This condition causes an increase in methylmalonic acid and homocysteine levels, low density is observed in methionine levels. Clinical findings include development backrest, seizures, hypotoni, megaloblastic anemia and progressive neurological degradation. The treatment contains high dose vitamin B12, betaine and dietary arrangement.
Frequently Asked Questions
❓ What is Homosistinürili metilmalonik asidemi, cblJ tipi?
Homosistinürili metilmalonik asidemi, cblJ tipi; cblJ type homosistinide methylmalonic asidemi is a hereditary disease with autozomal resessive passage, which occurs as a result of a defect in the cell intracellular metabolism of vitamin B12. This condition causes an increase in methylmalonic acid and homocysteine levels, low density is observed in methionine levels. Clinical findings include development backrest, seizures, hypotoni, megaloblastic anemia and progressive neurological degradation. The treatment contains high dose vitamin B12, betaine and dietary arrangement.
❓ What is methylmalonic acidemia with homocystinuria, type cblJ in Turkish?
The Turkish equivalent of "methylmalonic acidemia with homocystinuria, type cblJ" is Homosistinürili metilmalonik asidemi, cblJ tipi.
❓ Which medical field is Homosistinürili metilmalonik asidemi, cblJ tipi related to?
This term belongs to the Diseases category.