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Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis.
Turk J Pediatr 2017; 59(4):471-474TJ

Abstract

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.

Authors+Show Affiliations

Pediatric Nutrition and Metabolism Unit, Eskisehir State Hospital, Eskişehir.Pediatric Nutrition and Metabolism Unit, Osmangazi University Faculty of Medicine, Eskisehir.Medical Geneticist, Intergen Genetics Centre, Ankara, Turkey.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

29624230

Citation

Kılıç-Yıldırım, Gonca, et al. "Beta-ketothiolase Deficiency: an Unusual Cause of Recurrent Ketoacidosis." The Turkish Journal of Pediatrics, vol. 59, no. 4, 2017, pp. 471-474.
Kılıç-Yıldırım G, Durmuş-Aydoğdu S, Ceylaner S, et al. Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis. Turk J Pediatr. 2017;59(4):471-474.
Kılıç-Yıldırım, G., Durmuş-Aydoğdu, S., Ceylaner, S., & Sass, J. O. (2017). Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis. The Turkish Journal of Pediatrics, 59(4), pp. 471-474. doi:10.24953/turkjped.2017.04.016.
Kılıç-Yıldırım G, et al. Beta-ketothiolase Deficiency: an Unusual Cause of Recurrent Ketoacidosis. Turk J Pediatr. 2017;59(4):471-474. PubMed PMID: 29624230.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis. AU - Kılıç-Yıldırım,Gonca, AU - Durmuş-Aydoğdu,Sultan, AU - Ceylaner,Serdar, AU - Sass,Jörn Oliver, PY - 2018/4/7/entrez PY - 2017/1/1/pubmed PY - 2018/12/20/medline KW - isoleucine metabolism KW - keton bodies KW - recurrent ketoacidotic episodes KW - tiglyglycine SP - 471 EP - 474 JF - The Turkish journal of pediatrics JO - Turk. J. Pediatr. VL - 59 IS - 4 N2 - 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. SN - 0041-4301 UR - https://www.unboundmedicine.com/medline/citation/29624230/Beta_ketothiolase_deficiency:_An_unusual_cause_of_recurrent_ketoacidosis_ L2 - http://www.turkishjournalpediatrics.org/abstract.php?id=1751 DB - PRIME DP - Unbound Medicine ER -