📂 الأمراض
branched-chain keto acid dehydrogenase kinase deficiency — التعريف
Dallı zincirli keto asit dehidrogenaz kinaz eksikliği / branched-chain keto acid dehydrogenase kinase deficiency
A rare metabolic disease that occurs as a result of the deficiency of keto acid dehydrogenase kinasis enzyme with branch chain. This enzyme plays a critical regulatory role in the destruction of branch chain amino acids (lösin, isolösin, valin). In the case of deficiency, these amino acids and toxic side products can lead to neurological damage, development retardation and metabolic crisis. المرض يظهر أعراضاً مشابهة لمرض البول الخريطي، لكن يمكن أن يكون أخف
الأسئلة الشائعة
❓ ما هو Dallı zincirli keto asit dehidrogenaz kinaz eksikliği؟
Dallı zincirli keto asit dehidrogenaz kinaz eksikliği; a rare metabolic disease that occurs as a result of the deficiency of keto acid dehydrogenase kinasis enzyme with branch chain. This enzyme plays a critical regulatory role in the destruction of branch chain amino acids (lösin, isolösin, valin). In the case of deficiency, these amino acids and toxic side products can lead to neurological damage, development retardation and metabolic crisis. المرض يظهر أعراضاً مشابهة لمرض البول الخريطي، لكن يمكن أن يكون أخف
❓ ما معنى branched-chain keto acid dehydrogenase kinase deficiency بالتركية؟
المعادل التركي لـ "branched-chain keto acid dehydrogenase kinase deficiency" هو Dallı zincirli keto asit dehidrogenaz kinaz eksikliği.
❓ ما هو المجال الطبي الذي يتعلق بـ Dallı zincirli keto asit dehidrogenaz kinaz eksikliği؟
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