1. Patient's age is required.
2. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.
Patient Preparation: Fasting (overnight preferred, 4 hours minimum). Infants should be drawn just before next feeding (2-3 hours without total parenteral nutrition, if possible).
1. Collect specimen and place on wet ice.
2. Centrifuge immediately or within 4 hours of collection if specimen is kept at refrigerated temperature.
3. Being careful to ensure that no buffy coat is transferred, aliquot plasma into a plastic vial and freeze.
Send plasma frozen.
Reference values are for fasting patients.
Not all patients with homocystinuria will be detected by this assay. If there is a concern for homocystinuria, please order HCYSP / Homocysteine, Total, Plasma in tandem with amino acids.
Amino acids are the basic structural units that comprise proteins and are found throughout the body. Many inborn errors of amino acid metabolism, such as phenylketonuria and tyrosinemia, have been identified. Amino acid disorders can manifest at any age, but most become evident in infancy or early childhood. These disorders result in the accumulation or the deficiency of 1 or more amino acids in biological fluids, which leads to the clinical signs and symptoms of the particular amino acid disorder.
The clinical presentation is dependent upon the specific amino acid disorder. In general, affected patients may experience failure to thrive, neurologic symptoms, digestive problems, dermatologic findings, and physical and cognitive delays. If not diagnosed and treated promptly, amino acid disorders can result in intellectual disability and possibly death.
Treatment for amino acid disorders includes very specific dietary modifications. Nonessential amino acids are synthesized by the body, while essential amino acids are not and must be obtained through an individual's diet. Therapeutic diets are coordinated and closely monitored by a dietician or physician. They are structured to provide the necessary balance of amino acids with particular attention to essential amino acids and those that accumulate in a particular disorder. Patients must pay close attention to the protein content in their diet and generally need to supplement with medical formulas and foods. Dietary compliance is monitored by periodic analysis of plasma amino acids.
In addition, plasma amino acid analysis may have clinical importance in the evaluation of several acquired conditions including endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional disturbances, kidney failure, and burns.