The Turkish Journal of Pediatrics 2017 , Vol 59 , Num 4
Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis
Gonca Kılıç-Yıldırım 1 ,Sultan Durmuş-Aydoğdu 2 ,Serdar Ceylaner 3 ,Jörn Oliver Sass 4-5
1 Pediatric Nutrition and Metabolism Unit, Eskisehir State Hospital, Eskişehir
2 Pediatric Nutrition and Metabolism Unit, Osmangazi University Faculty of Medicine, Eskisehir
3 Medical Geneticist, Intergen Genetics Centre, Ankara, Turkey
4 Clinical Chemistry and Biochemistry and Children’s Research Center, University Children’s Hospital, Zürich, Switzerland
5 Bioanalytics and Biochemistry, Department of Natural Sciences, Bonn-Rhein Sieg University of Applied Sciences, Rheinbach, Germany
DOI : 10.24953/turkjped.2017.04.016 Kılıç-Yıldırım G, Durmuş-Aydoğdu S, Ceylaner S, Sass JO. Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis. Turk J Pediatr 2017; 59: 471-474.

Beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase, MAT or T2 deficiency) is a rare autosomal recessive disorder of isoleucine and ketone body metabolism due to acetyl-CoA acetyltransferase-1 (ACAT1) gene mutations. The disease is characterized by recurrent episodes of ketoasidosis which starts with vomiting and followed by dehydration and tachypnea. Here, we present a patient who was admitted to the hospital with severe acidosis and dehydration because of vomiting induced by protein rich nutrient and was diagnosed with MAT deficiency. 3-hydroxy-butyric acid, acetoacetic acid and 3-hydroxy-iso-valeric acid levels were significantly increased and tiglyglycine as trace amount in the urine organic acid analysis of the patient. Genetic analysis for ACAT-1 showed compound heterozygosity for the mutations c.949G>A (p.D317N) and c.951C>T (p.D317D), which both are known to cause exon 10 skipping and to be pathogenic missense mutations. Keywords : recurrent ketoacidotic episodes, keton bodies, tiglyglycine, isoleucine metabolism

Copyright © 2016