Two Siblings with Beta-Ketothiolase Deficiency: One Genetic Defect Two Different Pictures
Küçük Resim Yok
Tarih
2016
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Galenos Yayincilik
Erişim Hakkı
info:eu-repo/semantics/openAccess
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.
Açıklama
Anahtar Kelimeler
ACAT1 gene, beta-ketothiolase deficiency, encephalopathy, hyperammonemia, lactic acidosis
Kaynak
Journal of Pediatric Research
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
3
Sayı
2
