The first use of N-carbamylglutamate in a patient with decompensated maple syrup urine disease
Küçük Resim Yok
Tarih
2009
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Springer/Plenum Publishers
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Maple syrup urine disease (MSUD) is a defect in the catabolism of the branched-chain amino acids; leucine, isoleucine, and valine. Affected patients may also develop hyperammonaemia of unknown etiology. This report describes a four-year-old girl with MSUD, who presented with decompensated hyperleucinaemia with hyperammonaemia. The oral administration of the N-acetylglutamate analogue, N-carbamylglutamate (NCG), 200 mg/kg/day as a loading dose, and 100 mg/kg/day as a maintenance dose, in combination with standard therapy resulted in a significant decrease of plasma ammonia levels. This observation suggests that NCG may be an important adjunct to standard therapy in the management of decompensated MSUD patients with high leucine and ammonia levels. Supportive evidence from either randomized controlled trials or a large prospective cohort study is needed to confirm this interesting finding.
Açıklama
Anahtar Kelimeler
Maple syrup urine disease, Carbamylglutamate
Kaynak
Metabolic Brain Disease
WoS Q Değeri
Q3
Scopus Q Değeri
N/A
Cilt
24
Sayı
3
