[Sepsis, as the presenting form of hereditary tyrosinemia type I].
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.
Iglesias Niubo
J
J
Servicio de Pediatría de la Clínica Infantil de la Ciudad Sanitaria Vall d'Hebrón, Barcelona.
Riudor Taravilla
E
E
Goma Brufau
A R
AR
Civit Colas
M A
MA
Suñé Gracia
J M
JM
Bertrán Sanges
J M
JM
Gallart Catalá
A
A
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000150:complications* / Q000175:diagnosis; D004927:Escherichia coli Infections / Q000097:blood / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D014443:Tyrosine / Q000097:blood*
D014443:Tyrosine
Sepsis, como forma de presentación de tirosinemia hereditaria tipo I.