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 are found throughout the body. Many inborn errors of amino acid metabolism have been identified, including glutaric acidemia type 1, which affect other metabolic activities. Amino acid disorders can manifest at any time in a person's life, 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.
Tryptophan is an essential amino acid necessary for the synthesis of serotonin, melatonin, and niacin. Low plasma concentrations of tryptophan have been associated with clinical observations of insomnia, anxiety, and depression.
Glutaric acidemia type 1 is an autosomal recessive disorder of tryptophan and lysine metabolism caused by a deficiency of glutaryl-CoA dehydrogenase. Early diagnosis and treatment is essential to help prevent encephalopathic crises leading to brain degeneration. These can be provoked by infections, trauma, fever, and fasting. Treatment consists of preventing neurodegeneration through strict adherence to an emergency protocol. Dietary protein, in particular, lysine, is restricted during the vulnerable period of brain development from 0 to 5 years of age. In addition to other indices of malnutrition, the measurement of plasma concentration of tryptophan is used as an indicator of appropriate dietary therapy.
Investigating inadequate tryptophan intake and monitoring dietary treatment
If the result is within the respective age-matched reference range, no interpretation is provided. When an abnormal result is reported, an interpretation may be added including a correlation to available clinical information, elements of differential diagnosis, and recommendations for additional biochemical testing, if applicable.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Abnormal plasma concentrations of tryptophan are not diagnostic for a specific disorder and must be interpreted in the context of a patient's clinical presentation and other laboratory results.
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.
< or =23 months: 17-75 nmol/mL
2 years-17 years: 23-80 nmol/mL
> or =18 years: 29-77 nmol/mL
Clinical References Provides recommendations for further in-depth reading of a clinical nature
Hoffmann GF, Schulze A: Organic acidurias. In Pediatric Endocrinology and Inborn Errors of Metabolism. Edited by K Sarafoglou, GF Hoffmann, KS Roth, New York, McGraw-Hill Medical Division, 2009, pp 108-112