Uzun Süre Takipli Glutarik Asidüri Tip 1 Olgusunda Beslenme Programının Önemi: Olgu Sunumu

Yıl 2022, Cilt: 2 Sayı: 2, 283 - 288, 22.08.2022

Büşra Demirer Hülya Yardımcı Nevra Koç

Öz

Glutarik asidüri tip 1 otozomal resesif geçişli kalıtsal bir nörometabolik hastalıktır. Lizin, triptofan ve hidroksilizin katabolizmasında etkili olan glutaril CoA dehidrogenaz enzim aktivite eksikliği ya da enzim eksikliği ile karakterizedir. Katabolize olamayan amino asitlerin metabolizması sonucu çeşitli dokularda ve beyinde glutarik asit, 3-OH glutarik asit, glutaril karnitin gibi toksik metabolitler birikir. Beynin bazal gangliyonlarına etki ederek çeşitli hasarlara yol açabilmektedir. Prevalansı bölgelere göre değişmekle birlikte genel popülasyonda 1:110.000 olarak belirlenmiştir. Hastalığın erken teşhisi kalıcı nörolojik hasarları önleyebilirken aynı zamanda hastalığa bağlı mortalite ve morbiditeyi azaltabilmektedir. Hastalığın tedavisinde ise düşük proteinli beslenme programı ve karnitin takviyesi bulunmaktadır. Tıbbi beslenme tedavisinin düzenli takibinin distonik hareket bozukluklarının, ensefalopatik kriz riskinin ve nörolojik hasarların azalmasında etkili olduğu belirtilmektedir. Hastaların yaşam boyu kullanacakları beslenme programının hastaya bütün detayları ile anlatılması hayati önem taşımaktadır.

Anahtar Kelimeler

Glutarik asidüri, Mental retardasyon, Lizin, Triptofan, Nöroloji

Importance of Nutrition Program in a Case of Glutaric Aciduria Type 1 with Long-Term Follow- up: A Case Report

Öz

Glutaric aciduria type 1 is an autosomal recessive inherited neurometabolic disease. It is characterized by glutaryl CoA dehydrogenase enzyme activity deficiency or enzyme deficiency, which is effective in the catabolism of lysine, tryptophan and hydroxylysine. As a result of the metabolism of non-catabolizable amino acids, toxic metabolites such as glutaric acid, 3-OH glutaric acid, and glutaryl carnitine accumulate in various tissues and in the brain. It can cause various damages by affecting the basal ganglia of the brain. Although its prevalence varies according to regions, it was determined as 1:110,000 in the general population. Early diagnosis of the disease can prevent permanent neurological damage, while reducing mortality and morbidity associated with the disease. In the treatment of the disease, there is a low protein diet and carnitine supplementation. It is stated that regular follow-up of medical nutrition therapy is effective in reducing dystonic movement disorders, risk of encephalopathic crisis and neurological damage. It is vital that the patient is told all the details of the nutrition program that they will use throughout their lives.

Anahtar Kelimeler

Glutaric aciduria, Mental retardation, Lysine, Tryptophan, Neurology

Kaynakça

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