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On-line version ISSN 1029-3019


HERNANDEZ DINZA, Pablo Antonio; ASCANIO RODRIGUEZ, Carlos  and  ACOSTA CAMACHO, Odelinda. Type 1 Tyrosinemia in an infant. MEDISAN [online]. 2018, vol.22, n.9, pp.970-976. ISSN 1029-3019.

The case report of a 2 months of age patient is described who was born at term and normal in weight; she fed with exclusive breast feeding and she had a history of 2 previous admissions (severe anemia and common cold). She was hospitalized in the Intensive Therapy Service of "Dr. Antonio María Béguez Caesar" Southern Pediatric Hospital due to widespread edemas and ascites, with a fast clinical course to an acute liver failure. The metabolic tests of urine and blood allowed to confirm the diagnosis of type 1 tyrosinemia. In spite of offering her the required care, the patient had an unfavourable clinical course.

Keywords : nursing infant; innate change of metabolism; tyrosinemia; Intensive Therapy Service.

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