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UK should screen for tyrosinaemia in newborn babies, committee recommends

BMJ 2023; 380 doi: (Published 02 February 2023) Cite this as: BMJ 2023;380:p275
  1. Gareth Iacobucci
  1. The BMJ

The UK National Screening Committee has recommended screening for tyrosinaemia in babies as part of the newborn blood spot screening programme in the four UK nations.

Tyrosinaemia type 1 (TYR1) is a rare genetic condition that prevents the body from breaking down a substance called tyrosine found in food—causing damage to the liver, kidneys, and the nervous system if untreated.

The …

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