Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis
| Autor: | Jörn Oliver Sass, Serdar Ceylaner, Sultan Durmuş-Aydoğdu, Gonca Kılıç-Yıldırım |
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| Přispěvatelé: | University of Zurich, Kılıç-Yıldırım, Gonca |
| Rok vydání: | 2018 |
| Předmět: |
Male
medicine.medical_specialty Beta-ketothiolase deficiency Mutation Missense 610 Medicine & health Gene mutation Compound heterozygosity 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Recurrence 030225 pediatrics Internal medicine medicine Missense mutation Humans 2735 Pediatrics Perinatology and Child Health Acetyl-CoA C-Acetyltransferase Amino Acid Metabolism Inborn Errors ACAT1 business.industry Infant Ketosis medicine.disease Acetyl-CoA C-Acyltransferase Ketoacidosis Endocrinology Acetoacetic acid chemistry 10036 Medical Clinic Pediatrics Perinatology and Child Health business 030217 neurology & neurosurgery Urine organic acids |
| Zdroj: | The Turkish journal of pediatrics. 59(4) |
| ISSN: | 2791-6421 |
| Popis: | Kilic-Yildirim G, Durmus-Aydogdu 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. |
| Databáze: | OpenAIRE |
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