Disorders of Amino Acid Metabolism - TYR-I
Tyrosinaemia Type I (TYR-I) is caused by the absence of an enzyme participating in the metabolism of amino acid tyrosine and occurs in approximately 1 in every 80,000 newborns. The by-products of tyrosine metabolism, particularly a very toxic compound called succinylacetone, build up in the liver. Symptoms generally begin in the first few weeks of life and progress to liver or kidney failure, nerve damage and death. Drug treatment along with a low-protein diet is very effective in preventing liver and kidney damage.
Disorders of Amino Acid Metabolism
MSUD Maple Syrup Urine Disease
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