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Test ID: AAQP
Amino Acids, Quantitative, Plasma

Useful For Suggests clinical disorders or settings where the test may be helpful

Evaluating patients with possible inborn errors of metabolism

 

May aid in evaluation of endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional disturbances, renal failure, and burns

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Amino acids are the basic structural units that comprise proteins, and as such, are found throughout the body. Amino acid disorders are caused by impaired metabolism or transport of proteins and amino acids. This results in the accumulation or the deficiency of one or more amino acids in biological fluids.

 

Inborn errors of amino acid metabolism can manifest themselves at anytime in a person's life, but most become evident in infancy and early childhood. Specific symptoms are dependent upon the type of amino acid disorder. Affected patients may have failure to thrive, neurological symptoms, digestive problems, locomotor retardation, and a wide spectrum of laboratory findings. If not diagnosed promptly and treated properly, these disorders can result in poor growth, developmental delays, mental retardation, and death.  

 

Many amino acids are synthesized by the body and are referred to as nonessential. Essential amino acids, however, must be obtained through an individual’s diet. Treatment for amino acid disorders typically involves very specific dietary modifications, which must be coordinated and closely monitored by a dietician or physician and involves periodic amino acids analysis.

 

Amino acid analysis also may have clinical importance in the evaluation of several acquired conditions, including endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional disturbances, renal diseases, and burns.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

Age-dependent reference values are listed in Amino Acid Reference Values in Inborn Errors of Amino Acid Metabolism in Special Instructions.

Interpretation Provides information to assist in interpretation of the test results

When abnormal results are detected, a detailed interpretation is given, including an overview of the results and of their significance, a correlation to available clinical information, elements of differential diagnosis, recommendations for additional biochemical testing, and in vitro confirmatory studies (enzyme assay, molecular analysis), name and phone number of key contacts who may provide these studies at Mayo or elsewhere, and a phone number to reach one of the laboratory directors in case the referring physician has additional questions.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Reference values are for fasting patients.

Clinical Reference Provides recommendations for further in-depth reading of a clinical nature

Amino acids. In The Metabolic and Molecular Bases of Inherited Disease. 8th edition. Edited by CR Scriver, AL Beaudet, WS Sly, et al. New York, McGraw-Hill, Inc. 2001, pp 1667-2105

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test