Abstract
Tyrosinemia when associated with hypermethioninemia results in chronic liver disease and/or death. We report a 3 y.o. tyrosinemic male who has no evidence of liver disease after early dietary therapy. L.W. was diagnosed shortly after birth because a previous sib died of liver failure at age 6 months with tyrosinemia and hypermethioninemia (plasma tyrosine 0.519 and methionine 0.656 uM/ml; normal ranges are tyrosine 0.045-0.099 and methionine 0.023-0.035). L.W.'s plasma tyrosine, normal at birth, became elevated on day 3 (0.222 uM/ml) and rose on a low protein diet to 0.822 by 5 weeks. Methionine was abnormal at 5 weeks (0.160 uM/ml). Sobee plus 3200-AB begun at 6 weeks corrected tyrosine values but methionine ranged from 0.310 to 1.550 until 6½ months of age when he was able to tolerate a normal, low protein diet. Serum albumin (0.96 G%), prothrombin (0), pro time (15%) at 2 months rose to normal (albumin 4.06 G% at 11 mos: and pro time 85% at 22 mos). Repeated renal phosphate and creatinlne clearances were normal. He had no difficulty with a general anesthetic for a herniorrhaphy at 22 months. Psychomotor development is normal as are liver function studies at 3 years of age. Height, weight and head size fall in the normal percentiles.
Early dietary, tyrosine restriction can apparently be very effective in preventing liver disease in this disorder.
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Iii, G., Barness, L. MALIGNANT TYROSINEMIA WITH APPARENT DIETARY CURE. Pediatr Res 8, 436 (1974). https://doi.org/10.1203/00006450-197404000-00579
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DOI: https://doi.org/10.1203/00006450-197404000-00579
