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Revista chilena de pediatría

versión impresa ISSN 0370-4106


NARDIELLO N., Ana; SALGADO B., Amparo  y  BRAVO, Paulina. Tyrosinaemia Type 1: a clinical case report. Rev. chil. pediatr. [online]. 2002, vol.73, n.6, pp.590-594. ISSN 0370-4106.

Tyrosinaemia type 1 is an inherited metabolic disorder caused by the deficiency of fumaryl-acetoacetato hydrolase, a terminal enzyme in the degradation pathway of tyrosine. It affects the liver, central nervous system and the kidneys. Objective: The rarity of tyrosinaemia type 1 is such that we consider this report important, in order to improve the clinical and laboratory suspicion of this disorder, because with early treatment the prognosis is improved. Case report: a boy aged 1 month and 11 days was admitted to the Padre Hurtado hospital with hyperemesis, abdominal distension and fever of unknown origin. On admission he had macroscopic haematuria and a left palpable kidney. A renal ultrasound showed nephrocalcinosis and bilaterally enlarged kidneys. Biochemical screening showed hypercalciuria, hypercalcaemia, hypophosphataemia, hypoalbuminaemia, elevated alkaline phosphatase, LDH, transaminases, bilirubin, an increased tubular reabsorption of phosphate and x-ray signs compatable with rickets. All cultures were negative. The patient continued with abdominal distension and a repeat abdominal ultrasound showed mild ascites. Liver function tests were abnormal, prothrombin time 10%, TTPK 112s. Due to the high suspicion of tyrosinaemia, alphafetoprotein and amino acid screening were performed, the results confirming the diagnosis. Conclusion: The review of the related literature shows the full range of clinical presentations, and a new treatment to improve the outcome in these patients

Palabras clave : tyrosinaemia type 1; diagnosis; clinical features.

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