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Test Catalog

Test ID: PKUBS    
Phenylalanine and Tyrosine, Blood Spot

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

Monitoring effectiveness of dietary therapy in patients with hyperphenylalaninemia

 

This test is not sufficient for follow-up for abnormal newborn screening results or for establishing a diagnosis of a specific cause of hyperphenylalaninemia

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test provides evaluation of patients with hyperphenylalaninemia or monitoring effectiveness of dietary therapy.

 

This test does not provide sufficient follow-up for abnormal newborn screening results because other causes of hyperphenylalaninemia (eg, BH4 deficiency) cannot be excluded by this test alone.

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

Phenylketonuria (PKU) is the most frequent inherited disorder of amino acid metabolism (about 1:10,000-1:15,000) and was the first successfully treated inborn error of metabolism. It is inherited in an autosomal recessive manner and is caused by a defect in the enzyme phenylalanine hydroxylase (PAH), which converts the essential amino acid phenylalanine to tyrosine. Deficiency of PAH results in decreased levels of tyrosine and an accumulation of phenylalanine in blood and tissues. Untreated, PKU leads to severe brain damage with intellectual impairment, behavior abnormalities, seizures, and spasticity. The level of enzyme activity differentiates classic PKU (PAH activity <1%) from other milder forms; however, all are characterized by increased levels of phenylalanine (hyperphenylalaninemia). Treatment includes the early introduction of a diet low in phenylalanine.

 

Tetrahydrobiopterin (BH4) is a cofactor of not only PAH, but also of the tyrosine and tryptophan hydroxylases. Approximately 2% of patients with hyperphenylalaninemia have a deficiency of BH4, which causes a secondary deficit of the neurotransmitters dopamine and serotonin. There are 4 autosomal-recessive disorders associated with BH4 deficiency plus hyperphenylalaninemia; guanosine triphosphate cyclohydrolase deficiency, 6-pyruvoyl tetrahydropterine synthase deficiency, dihydropteridine reductase deficiency, and pterin-4 alpha carbinolamine dehydratase (PCD) deficiency. This group of disorders, with the exception of PCD, is characterized by progressive dystonia, truncal hypotonia, extremity hypertonia, seizures, and mental retardation though milder presentations exist. PCD has no symptoms other than transient alterations in tone. Treatment may include administration of BH4, L-dopa (and carbidopa) 5-hydroxytryptophan supplements, and a low phenylalanine diet.

 

Tyrosine is a nonessential amino acid that is derived from dietary sources, the hydroxylation of phenylalanine, or protein breakdown. Primary (PKU) and secondary (defects of BH4 metabolism) hyperphenylalaninemia can cause abnormally low levels of tyrosine. Measurement of the phenylalanine:tyrosine ratio is helpful in monitoring appropriate dietary intake.

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.

PHENYLALANINE

27.0-107.0 nmol/mL

 

TYROSINE

<4 weeks: 40.0-280.0 nmol/mL

> or =4 weeks: 25.0-150.0 nmol/mL

Interpretation Provides information to assist in interpretation of the test results

The quantitative results of phenylalanine and tyrosine with age-dependent reference values are reported without added interpretation. When applicable, reports of abnormal results may contain an interpretation based on available clinical information.

 

A phenylalanine:tyrosine ratio higher than 3 is considered abnormal.

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

No significant cautionary statements

Clinical Reference Recommendations for in-depth reading of a clinical nature

1. Mitchell GA, Grompe M, Lambert M, Tanguay RM: Hypertyrosinemia. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed November 05, 2020. Available at https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=2250828252

2. Donlon J, Sarkissian C, Levy H, Scriver CR: Hyperphenylalaninemia: Phenylalanine hydroxylase deficiency. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed November 05, 2020. Available at https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225081923

Special Instructions Library of PDFs including pertinent information and forms related to the test