Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis

  • 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.

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Metadaten
Document Type:Article
Language:English
Parent Title (English):Turk J Pediatr. (The Turkish journal of pediatrics)
Volume:59
Issue:4
First Page:471
Last Page:474
ISSN:0041-4301
DOI:10.24953/turkjped.2017.04.016
Publication year:2017
Tag:isoleucine metabolism; keton bodies; recurrent ketoacidotic episodes; tiglyglycine
Departments, institutes and facilities:Fachbereich Angewandte Naturwissenschaften
Institut für funktionale Gen-Analytik (IfGA)
Dewey Decimal Classification (DDC):600 Technik, Medizin, angewandte Wissenschaften / 610 Medizin und Gesundheit / 610 Medizin und Gesundheit
Entry in this database:2018/06/07

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