LATE ONSET ARGININE SUCCINATE LYASE DEFICIENCY WITH NORMAL PLASMA AMMONIA LEVEL
[ N/A ]
Tarih
2011
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Nobel Ilac
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Arginine succinate lyase (ASL) deficiency is one of the most common cause of urea cycle defect and shows all characteristics of this disorders. This disease is presented with hyperammonemia, abnormally kinky hair and mental retardation. 6-years-old-girl was brought to our hospital because of skin eruption, weight loses, abdominal pain, having no appetite, polydipsia and pollakiuria. In physical examination, especially occipital balding, mental retardation, hepatomegaly, ataxia and articulation defect were found. She, who was diagnosed as ASL deficiency after the laboratory examinations, had normal blood ammonia levels. Finally in this study, we emphasize; ASL deficiency must be thought when a child has mental retardation and cerebellar ataxia, even if normal ammonia levels.
Açıklama
Anahtar Kelimeler
Urea cycle defects, arginine succinate lyase deficiency, normal blood ammonia levels, mental retardation, ataxia
Kaynak
Nobel Medicus
WoS Q Değeri
Q4
Scopus Q Değeri
Cilt
7
Sayı
1
