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Journals / The Journal of Pediatric Research / 2016 / Cilt: 3 - Sayı: 2

Two Siblings with Beta-Ketothiolase Deficiency: One Genetic Defect Two Different Pictures

Beta-Ketotiolaz Eksikliği Tanısı Alan İki Kardeş: Tek Genetik Defekt İki Farklı Tablo

Melis Demir KÖSE
Ebru CANDA
Mehtap KAĞNICI
Rana İŞGÜDER
Aycan ÜNALP
Sema UÇAR KALKAN
Luzy BAHR
Corinne BRİTSCHGİ
Jörn Oliver SASS
MAHMUT ÇOKER
Pages
113–116
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In this study, we present two sibling cases with quite different clinical properties.

📌 3 Key Takeaways

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Objective & Hypothesis:Deficiency of mitochondrial acetoacetyl-coenzyme A thiolase T2 (methylacetoacetyl-coenzyme A thiolase, MAT) or ?-ketothiolase is a rare autosomal recessive disorder that is characterized by ketoacidosis episodes.
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Key Findings & Data:The classical biochemical profile of T2 deficiency is a result of mutations in both alleles of the ACAT1 gene and comprises characteristic abnormalities in urinary organic acids and blood or plasma acylcarnitine profiles.
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Conclusion & Impact:In this study, we present two sibling cases with quite different clinical properties.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Deficiency of mitochondrial acetoacetyl-coenzyme A thiolase T2 (methylacetoacetyl-coenzyme A thiolase, MAT) or ?-ketothiolase is a rare autosomal recessive disorder that is characterized by ketoacidosis episodes. Outcomes vary from normal development to severe cognitive impairment or even death after an acute episode of ketoacidosis. The classical biochemical profile of T2 deficiency is a result of mutations in both alleles of the ACAT1 gene and comprises characteristic abnormalities in urinary organic acids and blood or plasma acylcarnitine profiles. In this study, we present two sibling cases with quite different clinical properties.

Özet

Mitokondriyal asetoasetil-koenzim A tiolaz T2 eksikliği (MAT- ?-ketotiolaz) ketoasidotik ataklarla karakterize nadir bir otozomal resesif hastalıktır. Klinik gidişat tamamen normal gelişimsel süreçten ağır mental retardasyona hatta atak sonrası ölüme kadar değişebilir. Klasik T2 eksikliğinin idrar organik asit ve karnitin profiline yansıyan biyokimyasal özellikleri ACAT1 geninde her iki allelde de oluşacak mutasyonlar sonucu görülmektedir. Bu yazımızda oldukça farklı fenotipik özellikler gösteren ancak aynı mutasyonu paylaşan iki kardeşin bulguları tartışılmıştır.

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Cite This Article

KÖSE, M. D., CANDA, E., KAĞNICI, M., İŞGÜDER, R., ÜNALP, A., KALKAN, S. U., BAHR, L., BRİTSCHGİ, C., SASS, J. O., ÇOKER, M. (2016). Two Siblings with Beta-Ketothiolase Deficiency: One Genetic Defect Two Different Pictures. The Journal of Pediatric Research, Cilt: 3 - Sayı: 2, 113–116. https://ajindex.com/articles/362981

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