Abstract
Type I tyrosinemia is a lack of fumarylacetoacetate hydrolyase (FAA), with accumulation of abnormal metabolites of tyrosine that are toxic to both, liver and kidney. Diagnosis of tyrosinemia was achieved in a 5.0 year old boy by the finding of high serum tyrosine level (337 umol/L) and low lymphocyte FAA activity. He showed liver cirrhosis, renal tubular dysfunction and hypophosphatemic rickets. He began a low tyrosine and phenylalanine diet, high oral phosphate doses and 1,25 -dihydroxyvitamin D3. At 12.6 years his height was -0.4 DS and growth velocity was 3.5 cm/year; hepatic ultrasound showed a nodule of 3.5 cm, and a-fetoprotein raised (900 ng/ml). He underwent total hepatectomy and liver transplantation (Tx); biopsy of the liver nodule confirmed hepatoma Post Tx, renal tubular dysfunction improved and serum phosphate and tyrosine levels normalized (48 umol/L). At 14.6 years, he had height −3.9 DS, growth velocity 8.4 cm/year, bone age 11 years genital stage IV and serum testosterone 310 ng/dl; he began on LH-RH analog therapy. LHRH analog therapy was began in order to increase final adult height.
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Caturelli, S., Fraga, A., Pascualini, T. et al. TYROSINEMIA TYPE I. RESOLUTION OF THE METABOLIC ABNORMALITIES AND INCREASED GROWTH FOLLOWING LIVER TRANSPLANTATION.. Pediatr Res 33, 662 (1993). https://doi.org/10.1203/00006450-199306000-00045
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DOI: https://doi.org/10.1203/00006450-199306000-00045