📂 Diseases
methylmalonic aciduria and homocystinuria type cblD — Definition
metilmalonik asidüri ve homosistinüri tip cblD / methylmalonic aciduria and homocystinuria type cblD
Methylmalonic is a rare autozomal resessive disease, resulting from a disorder in the metabolism of vitamin B12 (cobalamin). This situation leads to the rise of methylmalonic acid and homocysteine levels, which can cause neurological damage, development retardation and metabolic crisis. cblD type is characterized by a defect in the intracellular processing of cobalami, and manifests symptoms in early childhood.
Disease Definition
🔬 Disease Definition
Methylmalonic aciduria and homocystinuria type cblD, B12 vitamini metabolizmasında kobalamin (cbl) D defekti sonucu ortaya çıkan, otozomal resesif geçişli bir metabolik hastalıktır. Metilmalonik asit ve homosistein birikimi ile karakterizedir.
🧬 Causes & Risk Factors
MMADHC genindeki mutasyonlar nedeniyle kobalaminin hücre içi metabolizmasında bozukluk; B12 vitamini, metilmalonil-CoA mutaz ve metiyonin sentaz enzimlerinin kofaktörü olarak işlev göremez.
🩺 Symptoms & Signs
Hipotoni, gelişim geriliği, nöbetler, megaloblastik anemi, metabolik asidoz, hiperamonemi, görme kaybı, optik atrofi, ensefalopati, büyüme geriliği.
📋 Diagnostic Methods
Plazma ve idrarda metilmalonik asit ve homosistein yüksekliği; serum B12 düzeyi normal; genetik analiz ile MMADHC gen mutasyonu; fibroblast kültüründe kobalamin metabolizması testi.
💊 Treatment Options
Yüksek doz hidroksikobalamin (B12) enjeksiyonları; metiyonin kısıtlı diyet; karnitin, betain ve folat takviyesi; semptomatik tedavi (antiepileptikler, fizik tedavi).
⚠️ Complications
Nörolojik hasar, optik atrofi, körlük, böbrek yetmezliği, kardiyovasküler hastalıklar (homosisteinemiye bağlı), gelişimsel gecikme.
Frequently Asked Questions
❓ What is metilmalonik asidüri ve homosistinüri tip cblD?
metilmalonik asidüri ve homosistinüri tip cblD; methylmalonic is a rare autozomal resessive disease, resulting from a disorder in the metabolism of vitamin B12 (cobalamin). This situation leads to the rise of methylmalonic acid and homocysteine levels, which can cause neurological damage, development retardation and metabolic crisis. cblD type is characterized by a defect in the intracellular processing of cobalami, and manifests symptoms in early childhood.
❓ What is methylmalonic aciduria and homocystinuria type cblD in Turkish?
The Turkish equivalent of "methylmalonic aciduria and homocystinuria type cblD" is metilmalonik asidüri ve homosistinüri tip cblD.
❓ Which medical field is metilmalonik asidüri ve homosistinüri tip cblD related to?
This term belongs to the Diseases category.