3 / 17
Pediatrics Conference 2018
Journal of Pediatric Care
ISSN: 2471-805X
Page 39
March 26-27, 2018
Edinburgh, Scotland
2
nd
Edition of International Congress on
Pediatrics
B
eta-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 5
th
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.
Biography
Hanna Alobaidy has completed her MB BCh from Faculty of Medicine, Alex-
andria University, Egypt in 1980 and Postdoctoral studies in Pediatrics from
Karolinska Institute StockholmSweden, 1990. She is a Consultant of clinical
pediatrics and inborn errors of metabolism. She is currently serving as Con-
sultant Metabolist in outpatient clinic Alkhadra Hospital, Tripoli, Libya. She
has committed to a career in Academic Medicine and has over 20 years of
experience of undergraduate and postgraduate medical education in Uni-
versity of Tripoli Medical College. She has published papers in national and
international peer-reviewed medical journals with over 25 citations. Her top
clinical researches are: The 1
st
study and reference report about the “Pattern
of metabolic disorders in Libya, long term experience in tyrosinemia type I
with NTBC (17years) and Niemann-Pick C disease follow up”.
hanna_alobaidy@hotmail.comTwo Libyan siblings with beta-ketothiolase deficiency: a case
report and review of literature
Hanna Alobaidy
1
, Elsayed Abdelkreem
2,3
, Yuka Aoyama
4
, Shaimaa Mahmoud
3
,
Mohamed Abd El Aal
3
and
Toshiyuki Fukao
2
1
Tripoli University, Elkhadra Hospital Libya
2
Gifu University, Japan
3
Sohag University, Egypt
4
Chubu University, Japan
Hanna Alobaidy et al., J Pediatr Care, Volume 4
DOI: 10.21767/2471-805X-C1-006