Phenylalanine (PKU), Quantitative, Blood


Reference Range

Amino acids are the building blocks for proteins in the body. They are highly variable and their metabolism is dependent on hormonal, metabolic and dietary factors. Accumulation of amino acids can occur due to either metabolic problems (impaired kidney or liver function) or enzyme deficiencies, which, in early infancy or childhood of affected individuals, can cause physical or mental retardation. This test is a qualitative test used to screen for abnormally high levels of amino acids. Abnormal results should be followed by amino acid quantitative test for confirmation. INCREASED levels are associated with renal failure, fructose intolerance, Reye’s syndrome, Ketoacidosis, Tyrosinemia, Phenylketonuria (PKU), maple syrup urine disease, and Homocystinuria. Other related tests: Amino Acid Qualitative (Urine), Amino Acid Quantitative (Plasma & Urine).

Special Requirements

Fasting samples are preferred. Separate plasma from cells as soon as possible. Avoid haemolysed samples.

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