Tirosinemia de tipo I, aciertos y errores

Autor:	Eugenia Espinosa, Luis A. Barrera, Johana Guevara, Olga Yaneth Echeverri, Sandra Ardila
Rok vydání:	2014
Předmět:	Tyrosinaemia Cirrhosis business.industry Falla hepática Pediatrics Perinatology and Child Health Medicine Cirrosis business Neonatal liver failure Humanities Tirosinemia
Zdroj:	Pediatría. 47:55-59
ISSN:	0120-4912
DOI:	10.1016/s0120-4912(15)30136-1
Popis:	Tyrosinemia type I is an inborn error of metabolism of the amino acids, caused by a deficiency or absence of the enzyme activity of fumaril-acetoacetate hydrolase in the catabolism of tyrosine. It has a variable clinical presentation, from an acute severe neonatal form until a virtually asymptomatic form with late presentation. The rapid diagnosis and nutritional management is essential for a good outcome.Four clinical cases are presented, two of which were confirmed as tyrosinemia type I and two that were initially misdiagnosed. Diagnostic criteria and therapeutic management are emphasized.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2a5c636a23c4d1f6c5fd38ec5e1e249 https://doi.org/10.1016/s0120-4912(15)30136-1 Zobrazit plný text záznamu