[Sepsis, as the presenting form of hereditary tyrosinemia type I].
作者信息
Iglesias Niubo J, Riudor Taravilla E, Goma Brufau A R, Civit Colas M A, Suñé Gracia J M, Bertrán Sanges J M, Gallart Catalá A
机构信息
Servicio de Pediatría de la Clínica Infantil de la Ciudad Sanitaria Vall d'Hebrón, Barcelona.
出版信息
An Esp Pediatr. 1988 Sep;29(3):235-8.
PMID:3057981
Abstract
A case of hereditary tyrosinemia type I with a septic onset is reported. Diagnosis was established by the urinary presence of succinylacetone (SA) and deficiency in fumarylacetoacetate hydrolase (FAAH) in a culture of fibroblasts. Response to treatment with a diet in which the aminoacids phenylalanine, tyrosine and methionine were restricted is commented upon.
摘要
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