Two Siblings with Beta-Ketothiolase Deficiency: One Genetic Defect Two Different Pictures

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Kose M. D. , Canda E., Kagnici M., ISGUDER R., UNALP A., Ucar S. K. , ...Daha Fazla

JOURNAL OF PEDIATRIC RESEARCH, cilt.3, ss.113-116, 2016 (ESCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 3 Konu: 2
  • Basım Tarihi: 2016
  • Doi Numarası: 10.4274/jpr.25338
  • Sayfa Sayıları: ss.113-116


Deficiency of mitochondrial acetoacetyl-coenzyme A thiolase T2 (methylacetoacetyl-coenzyme A thiolase, MAT) or beta-ketothiolase is a rare autosomal recessive disorder that is characterized by ketoacidosis episodes. Outcomes vary from normal development to severe cognitive impairment or even death after an acute episode of ketoacidosis. The classical biochemical profile of T2 deficiency is a result of mutations in both alleles of the ACAT1 gene and comprises characteristic abnormalities in urinary organic acids and blood or plasma acylcarnitine profiles. In this study, we present two sibling cases with quite different clinical properties.