L-2-Hidroksi Glutarik Asidüri: Üç Olgu Sunumu

L-2-hidroksiglutarik asidüri nadir rastlanan, otozomal resesif geçişli, metabolik bir hastalıktır. Hastalık zihinsel engellilik, ataksi, ekstrapiramidal bulgular ve nöbetler ile gider. Tanısı kranial manyetik rezonans görüntüleme ve idrar organik asit incelemesi ile konur. Bu makalede L-2-hidroksiglutarik asidürili üç hastayı sunduk.

Abstract

L-2-hydroxiglutaric aciduria is a rare, autosomal recessive inherited metabolic disorder. The disease is characterized by intellectual disability, ataxia, extrapyramidal signs and seizures. Diagnosis is made by cranial magnetic resonance imaging and urine organic acid analysis. In this report, we presented three patients with L-2-hydroxiglutaric aciduria.

Anahtar kelimeler

L-2-hidroksiglutarik asidüri klinik bulgular tedavi L-2-hydroxiglutaric aciduria clinical findings treatment

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Bu Makaleye Atıf Yap

İNCECİK, F., MUNGAN, N., Hergüner, Ö. M., KÖR, D., ŞEKER, B., Altunbasak, S. (2014). L-2-Hidroksi Glutarik Asidüri: Üç Olgu Sunumu. Cukurova Medical Journal, Cilt: 39 - Sayı: 4, 0. https://ajindex.com/articles/56940

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Kaynakça (7)

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