Two Siblings with Beta-Ketothiolase Deficiency: One Genetic Defect Two Different Pictures
Makaleler > Tam Makale · 2016
Yazarlar: Melis Demir Kose, Ebru CANDA, Mehtap Kagnici, Rana ISGUDER, Aycan UNALP, Sema KALKAN UÇAR, Luzy BAHR, Corinne BRITSCHGI, Jorn Oliver SASS, Mahmut ÇOKER
JOURNAL OF PEDIATRIC RESEARCH, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2016, cilt 3, ss 113-116
DOI: 10.4274/jpr.25338
Özet
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.