Evaluation of plasma amino acid levels in children diagnosed with autism spectrum disorder

Öz

Aim: Autism Spectrum Disorder (ASD) is a neurodevelopmental disease with an average diagnosis age over three years. Metabolomic studies pointing out candidate amino acids are of major importance to guide trained clinicians for an early and faster diagnosis. We aimed to evaluate 37 plasma amino acids in children with ASD compared to age and sex matched controls in this study. Method: Twenty three children diagnosed with ASD in Research and Training Hospital (19 boys and 4 girls) and, age and gender matched 24 children without ASD were enrolled in this study. A total of 37 amino acid levels were measured with LC-MS/MS device. Results: While anserine, asparagine, citrulline, glutamic acid, hydroxyproline, N-methyl-histidine, ornithine, valine were significantly lower, sarcosine was significantly higher in ASD group compared with control group. Conclusions: Studying the combination of plasma and urine amino acids related to urea cycle disorders can be recommended for new investigations. The significant decrease in hydroxyproline can create the potential to explain muscle weakness in ASD. Although it is difficult to say whether the difference in the levels of conflicting amino acids in the literature is due to methodological or biological differences, further studies will make the subject clearer.

Anahtar Kelimeler

• Autism spectrum disorder
• amino acids
• liquid chromatography–tandem mass spectrometry
• hydroxyproline
• urea cycle disorders

Otizm spektrum bozukluğu tanılı çocuklarda plazma amino asit düzeylerinin değerlendirilmesi

Öz

Amaç: Otizm Spektrum Bozukluğu (OSB) ortalama tanı yaşı üç yıl civarında olan nörogelişimsel bir bozukluktur. Erken ve daha hızlı tanıda aday amino asitlere ilişkin metabolomik çalışmalar klinisyenler için büyük önem taşımaktadır. Bu çalışmada OSB'li çocuklarda 37 plazma amino asit, yaş ve cinsiyet olarak eşleştirilmiş kontrol grubu ile karşılaştırılması amaçlanmıştır. Yöntem: Bu çalışmaya Eğitim ve Araştırma Hastanesinde OSB tanısı almış yirmi üç çocuk (19 erkek ve 4 kız) ve OSB'si olmayan yaş ve cinsiyeti eşleştirilen 24 çocuk alınmıştır. 37 plazma amino asit LC-MS/MS cihazı ile ölçülmüştür. Bulgular: OSB grubunda kontrol grubuna göre anserin, asparagin, sitrülin, glutamik asit, hidroksiprolin, N-metil-histidin, ornitin, valin anlamlı olarak düşük saptanırken ve sarkozin anlamlı olarak yüksek saptanmıştır. Sonuç: Üre döngüsü bozuklukları ile ilişkili plazma ve idrar amino asitlerinin kombinasyonunun incelenmesi yeni araştırmalar için önerilebilir. Hidroksiprolindeki önemli düşüş, OSB'deki kas zayıflığını açıklama potansiyeli yaratabilir. Literatürdeki amino asit seviyelerindeki çelişkili düzeylerin metodolojik veya biyolojik farklılıklardan kaynaklanıp kaynaklanmadığını söylemek zor olsa da, daha ileri çalışmalar konuyu daha net hale getirecektir.

Anahtar Kelimeler

• Otizm spektrum bozukluğu
• amino asitler
• sıvı kromatografi-tandem kütle spektrometrisi
• hidroksiprolin
• üre döngüsü bozuklukları

Kaynakça

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