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4-Hydroxyphenylpyruvate
Detects 4-hydroxyphenylpyruvate in serum or plasma, indicating tyrosine metabolism disorders.
Why This Biomarker Matters
Elevated levels indicate tyrosinemia, a serious genetic disorder. Early detection through newborn screening enables dietary management and treatment to prevent liver cirrhosis and kidney failure.
Overview
4-Hydroxyphenylpyruvate (4-HPP) is a compound found in urine that appears elevated in tyrosinemia, a genetic disorder affecting amino acid metabolism. Tyrosinemia impairs the breakdown of the amino acid tyrosine, leading to toxic buildup affecting the liver, kidneys, and eyes. Early detection through urine screening, particularly in newborns, is critical for starting dietary restriction and medical treatment. Untreated tyrosinemia causes liver cirrhosis, kidney failure, and increased cancer risk.
Technical Information (LOINC Codes)
Standardized laboratory codes for this biomarker
72428-6Primary29871-172427-8Available Lab Tests
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