Glutamate dehydrogenase gene mutation and hyperinsulinemia hyperammonemia syndrome: A case report [Glutamat dehidrogenaz gen mutasyonu ve hipoglisemi hiperamonemi sendromu: Bir vaka takdimi]
Küçük Resim Yok
Tarih
2003
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Congenital hyperinsulinism characterized by over-secretion of insulin is the most common cause of recurrent hypoglycemia in the neonatal period and can cause irreversible brain damage. In this case hyperinsulinemia was diagnosed by inappropriately elevated insulin levels during hypoglycemia, with negative ketone bodies in the urine and increased glucose levels to glucagon. Hyperammonemia persisted with sodium benzoate therapy and was not affected by protein restriction. Serum and urine amino acids and organic acid levels in urine were not consistent with urea cycle defects or with other hyperammonemia syndromes. A410T mutation was detected in the child and she was diagnosed as hyperinsulinemia hyperammonemia syndrome.
Açıklama
Anahtar Kelimeler
Hyperammonemia, Hyperinsulinemia
Kaynak
Cocuk Sagligi ve Hastaliklari Dergisi
WoS Q Değeri
Scopus Q Değeri
Q4
Cilt
46
Sayı
1
