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UK should screen for tyrosinaemia in newborn babies, committee recommends
BMJ 2023; 380 doi: https://doi.org/10.1136/bmj.p275 (Published 02 February 2023) Cite this as: BMJ 2023;380:p275
- Gareth Iacobucci
- 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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