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Two Libyan siblings with beta-ketothiolase deficiency : a case report and review of literature
Joint Authors
Abd al-Al, Muhammad
Aoyama, Yuka
Mahmud, Shayma
Fukao, Toshiyuki
al-Ubaydi, Hanna
Abd al-Karim, al-Sayyid Khalil
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 18, Issue 2 (30 Apr. 2017), pp.199-203, 5 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2017-04-30
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency is an autosomal recessive disorder characterized by impaired metabolism of ketones and isoleucine.
In this study, we report on the first two siblings with T2 deficiency from Libya.
Both siblings presented with ketoacidosis, but the severity and outcomes were quite distinctive.
T2 deficiency in patient 1, the younger sister, manifested as recurrent severe episodes of ketoacidosis during the first year of life.
She unfortunately experienced neurodevelopmental complications, and died at 14 months old, after her 5th episode.
In contrast, patient 2, the elder brother, experienced only one ketoacidotic episode at the age of 4 years.
He recovered uneventfully and has continued to achieve age-appropriate development to date.
Upon analysis, the siblings’ blood acylcarnitine profiles had shown increased levels of C5:1 and C5-OH carnitine.
ACAT1 mutational analysis revealed patient 2 is homozygotic for a novel mutation–c.674C > A (p.Ala225Glu); this mutation was then confirmed by familial analysis.
Transient expression analysis of c.674C > A mutant T2 cDNA revealed neither potassium ion-activated acetoacetyl-CoA thiolase activity, which represents T2 activity, nor mutant T2 protein.
Therefore, this mutation is truly pathogenic.
Interestingly, the incidence of T2 deficiency may be high among the Arab population.
This disease should be considered in the differential diagnosis for unexplained ketoacidosis in children.
Patients with T2 deficiency could have a favorable outcome if diagnosed and treated early.
American Psychological Association (APA)
Abd al-Karim, al-Sayyid Khalil& al-Ubaydi, Hanna& Aoyama, Yuka& Mahmud, Shayma& Abd al-Al, Muhammad& Fukao, Toshiyuki. 2017. Two Libyan siblings with beta-ketothiolase deficiency : a case report and review of literature. The Egyptian Journal of Medical Human Genetics،Vol. 18, no. 2, pp.199-203.
https://search.emarefa.net/detail/BIM-760963
Modern Language Association (MLA)
Abd al-Karim, al-Sayyid Khalil…[et al.]. Two Libyan siblings with beta-ketothiolase deficiency : a case report and review of literature. The Egyptian Journal of Medical Human Genetics Vol. 18, no. 2 (Apr. 2017), pp.199-203.
https://search.emarefa.net/detail/BIM-760963
American Medical Association (AMA)
Abd al-Karim, al-Sayyid Khalil& al-Ubaydi, Hanna& Aoyama, Yuka& Mahmud, Shayma& Abd al-Al, Muhammad& Fukao, Toshiyuki. Two Libyan siblings with beta-ketothiolase deficiency : a case report and review of literature. The Egyptian Journal of Medical Human Genetics. 2017. Vol. 18, no. 2, pp.199-203.
https://search.emarefa.net/detail/BIM-760963
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 202-203.
Record ID
BIM-760963