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Journals / Türk Biyokimya Dergisi / 2019 / Cilt: 44 - Sayı: 4

Investigation of alanine, propionylcarnitine (C3) and 3-hydroxyisovalerylcarnitine (C5-OH) levels in patients with partial biotinidase deficiency

Kısmi biyotinidaz eksikliği olan hastalarda alanin, propiyonil karnitin (C3) ve 3-hidroksi izovaleril karnitin (C5-OH) seviyelerinin araştırılması

Meryem KARACA
Halil KAZANASMAZ
Pages
482–486
Publication Date
2022-11-05
DOI
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⚡ TL;DR(Too Long; Didn't Read)

The mean alanine levels in heel blood and plasma were significantly higher than those with normal bio- tinidase activity in patients with partial biotinidase deficiency.Conclusion: In cases with partial biotinidase deficiency, the heel blood alanine level that can be detected in the neonatal screening program may be a leading marker in diagnosis.

📌 3 Key Takeaways

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Objective & Hypothesis:Background: Biotinidase deficiency is a treatable meta- bolic disease that can be seen with various neurological and dermatological complications.
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Key Findings & Data:Biomarkers such as alanine, propionylcarnitine (C3) and 3-hydroxyisovaleryl- carnitine (C5-OH), which are used to diagnose biotinidase deficiency, are also present.Materials and methods: In cases with partial biotinidase deficiency and normal biotinidase activity, alanine, C3 and C5-OH levels were compared in the field by liquid chromatography-tandem mass spectrometry.Results: There was no significant difference between subjects with partial biotinidase deficiency and those with normal biotinidase activity between C3 and C5-OH levels.
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Conclusion & Impact:The mean alanine levels in heel blood and plasma were significantly higher than those with normal bio- tinidase activity in patients with partial biotinidase deficiency.Conclusion: In cases with partial biotinidase deficiency, the heel blood alanine level that can be detected in the neonatal screening program may be a leading marker in diagnosis.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Background: Biotinidase deficiency is a treatable meta- bolic disease that can be seen with various neurological and dermatological complications. Biomarkers such as alanine, propionylcarnitine (C3) and 3-hydroxyisovaleryl- carnitine (C5-OH), which are used to diagnose biotinidase deficiency, are also present.Materials and methods: In cases with partial biotinidase deficiency and normal biotinidase activity, alanine, C3 and C5-OH levels were compared in the field by liquid chromatography-tandem mass spectrometry.Results: There was no significant difference between subjects with partial biotinidase deficiency and those with normal biotinidase activity between C3 and C5-OH levels. The mean alanine levels in heel blood and plasma were significantly higher than those with normal bio- tinidase activity in patients with partial biotinidase deficiency.Conclusion: In cases with partial biotinidase deficiency, the heel blood alanine level that can be detected in the neonatal screening program may be a leading marker in diagnosis.

Özet

Amaç: Biyotinidaz eksikliği, çeşitli nörolojik ve dermato- lojik komplikasyonlarla görülebilen tedavi edilebilir bir metabolik hastalıktır. Biyotinidaz eksikliğini teşhis etmek için kullanılan alanin, propiyonil karnitin (C3) ve 3-hid- roksi izovaleril karnitin (C5-OH) gibi biyobelirteçler de mevcuttur. Materyal ve metod: Kısmi biyotinidaz eksikliği ve normal biyotinidaz aktivitesi olan olgularda alanin, C3 and C5-OH düzeyleri sıvı kromatografi-tandem kütle spektrometresi yöntemi ile karşılaştırıldı. Bulgular: Kısmi biyotinidaz eksikliği olan kişiler ile normal biyotinidaz aktivitesi olanların C3 ve C5-OH düzey- leri arasında anlamlı fark yoktu. Kısmi biyotinidaz eksik- liği olan hastalarda normal biyotinidaz aktivitesi olanlara göre topuk kanında ve plazmada ortalama alanin düzey- leri anlamlı derecede daha yüksekti. Sonuç: Kısmi biyotinidaz eksikliği olan olgularda yeni- doğan tarama programında tespit edilebilecek topuk kan alanin düzeyi tanıda yol gösterici bir belirteç olabilir.

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Cite This Article

KARACA, M., KAZANASMAZ, H. (2022). Investigation of alanine, propionylcarnitine (C3) and 3-hydroxyisovalerylcarnitine (C5-OH) levels in patients with partial biotinidase deficiency. Türk Biyokimya Dergisi, Cilt: 44 - Sayı: 4, 482–486. https://ajindex.com/articles/620895

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