A rare cause of coma in pediatric patients: Beta-ketothiolase (2-methylacetoacetyl-Co A thiolase) deficiency [Çocuklarda komanin nadir bir nedeni: Beta-ketotiyolaz (2-metilasetoasetil-koenzim A tiyolaz) eksikli?i]
Küçük Resim Yok
Tarih
2007
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Kare Publishing
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Beta-ketothiolase deficiency is a rare inborn error of L-isoleucine catabolism and ketone body metabolism. We present a 13-month-old, girl with beta-ketothiolase deficiency who was admitted with rapidly progressive coma. Severe ketoacidosis and mild hyperammonemia was documented. This rare case was treated successfully during the acute episode.
Açıklama
Anahtar Kelimeler
Beta-ketothiolase deficiency, Coma, Ketoacidosis
Kaynak
Turk Pediatri Arsivi
WoS Q Değeri
Scopus Q Değeri
N/A
Cilt
42
Sayı
2
