Valine, Urine

Laboratory assay overview

Amino acid analysis is necessary for the diagnosis of a variety of inborn errors of metabolism. These include, but are not limited to, phenylketonuria, tyrosinemia, citrullinemia, non-ketotic hyperglycinemia, maple syrup urine disease, and homocystinuria. The assay is also key for the continued monitoring of treatment plans for these disorders and useful for assessing nutritional status of patients. Our methodology is highly accurate at very low levels as well as at elevated levels.

Laboratory assay overview

Diagnosis and monitoring of inherited aminoacidurias, organic acidurias, and urea cycle defects. May be used as a follow-up confirmatory test to some abnormal newborn screen results. In most, but not all, cases where an amino acid is elevated in blood, it will also be elevated in urine. Some disorders, primarily those involving defective renal transport, will only manifest elevated amino acids in urine. In general, urinary amino acid levels are more variable than plasma levels. For this reason, screening for aminoacidopathies in urine alone is discouraged unless a disorder is suspected that predominantly manifests abnormalities in urine (eg, cystinuria, renal Fanconi syndrome).