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Newborn Metabolic Disease Screening

Heel-prick screening can detect metabolic diseases at an early stage.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Çocuk Sağlığı ve Hastalıkları department. Book Appointment →

What is Newborn Metabolic Disease Screening?

Newborn metabolic screening (heel-prick test) is a screening program performed using dried blood samples taken from the heel within 48-72 hours after birth. In Turkey, more than 40 diseases are screened under the Ministry of Health's expanded newborn screening program.

Screening covers metabolic diseases due to enzyme or transport disorders (amino acid, organic acid, fatty acid oxidation disorders) as well as hormonal diseases (congenital hypothyroidism, congenital adrenal hyperplasia).

Intellectual disability, organ damage, and death can largely be prevented with early diagnosis and dietary or pharmacological treatment. Babies with positive screening results should be referred immediately to a center for prompt confirmation.

Symptoms

Most babies appear asymptomatic before screening
Feeding difficulties and vomiting
Decreased alertness and hypotonia
Abnormal odor in hair and urine (in some metabolic diseases)
Hypoglycemic episodes
Prolonged jaundice

Risk Factors

Family history of metabolic disease
Consanguineous marriage
Previous unexplained infant death
Prematurity
Ethnic background (some diseases are more common in certain communities)
Abnormal prenatal diagnostic findings

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Immediately to a metabolism specialist when the screening result is abnormal
  • In case of feeding difficulty, abnormal odor, or change in consciousness
  • On day 3-5 for general newborn check and screening
  • Within hours when notified of a positive screening

Treatment Methods

01
Confirmation tests: blood amino acid and acylcarnitine profile, plasma amino acids, organic acids
02
Special diet formulas: phenylalanine-restricted formula in PKU
03
Cofactor replacement (B12, biotin, B6, etc.)
04
Enzyme replacement therapy (in some lysosomal storage diseases)
05
Neonatal intensive care: in case of metabolic crisis
06
Long-term follow-up by genetics and metabolism specialists

Which Department to Visit?

You can visit our Çocuk Sağlığı ve Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Çocuk Sağlığı ve Hastalıkları Department

Let us help you

You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.