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Phenylalanine | Laboratory research

Also known as: Phenylalanine
SKU: 607

120.00

Study material: Venous blood
Response time (working day): 14
The test is done on an empty stomach: Yes
Home call service: Yes
Country: EU

General Information

 

Determination of phenylalanine in the blood is useful for monitoring phenylketonuria and hyperphenylalaninemia.

Phenylketonuria is a genetic disorder of amino acid phenylalanine metabolism that is inherited in an autosomal recessive manner. The disease is caused by a genetic deficiency of the enzyme phenylalanine-hydroxylase synthase, which converts the amino acid phenylalanine into tyrosine. Deficiency of the enzyme leads to the accumulation of phenylalanine in the blood and tissues.

In untreated cases, the excessive concentration of phenylalanine in the blood causes brain tissue damage, delay in intellectual development, behavioral disorders, lethargy and spasticity in the child.

Material for examination: Venous blood

Preparation of the patient: The study is conducted on an empty stomach

Referral norms:

 

From 0 to 1 month: 6,3 – 22,3 mg

From 1 month to 2 years: 5,0 - 12,4 mg

2 - 18 years old: 4,3 - 15,0 mg

> Over 18 years: 5,8 – 14,0 mg

Product description

Testing process

Purchase a test Submission of material

Purchase a test

Submission of material

Results Online Consult a doctor

Results Online

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