Screening of newborn infants for inherited metabolic disorders

Inherited metabolic disorders are rare, genetic disorders that are typically diagnosed in early infancy. HUS maternity hospitals offer screening for rare inherited metabolic disorders for all newborn babies. Without screening, early detection of these disorders is very difficult. Most children suffering from these disorders appear perfectly healthy at birth. However, if left untreated, the dis-eases can lead to severe disability or death. It is therefore essential to start the right treatment as soon as possible, in order to minimise any damage caused by the disease.

Screening is offered for the following disorders:

Amino acid metabolism disorders

• Phenylketonuria (PKU)
• Tyrosinaemia type 1
• Maple syrup urine disease (MSUD)

Endocrinological disorders

• Congenital adrenal hyperplasia (CAH)

Organic acid metabolism disorders

• Congenital deficiency of vitamin B12
• Glutaric aciduria type 1 (GA-1)
• Isovaleric aciduria
• Methylmalonic aciduria
• Propionic aciduria

Fatty acid metabolism disorders

• CACT (Carnitine-acylcarnitine translocase deficiency)
• CPT (Carnitine palmitoyl transferase deficiency) type I
• CPT (Carnitine palmitoyl transferase deficiency) type II
• CUD (Carnitine uptake defect)
• Glutaric aciduria type II (GA-II)
• MCAD (Medium-chain acyl-CoA dehydrogenase deficiency)
• LCHAD (Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency)/TFP
  (Trifunctional protein deficiency)
• VLCAD (Very-long-chain acyl-CoA dehydrogenase deficiency)

Urea cycle disorders

• Citrullinemia
• Argininosuccinic aciduria (ASAuria)
• Argininemia

In the first 2–5 days of life (48-120 hours), your baby's heel will be pricked to obtain a few drops of blood for testing. A laboratory nurse will obtain the blood sample at the maternity ward or at the pediatric ward. If you have been discharged before a sample is taken, you can visit the HUSLAB laboratories mentioned at the end of these instructions for sampling while your baby is 2-5 days old.

The laboratory is open on weekdays. You can come to have your baby's sample taken with or without an appointment. Mornings are often busy at the sample collection sites and it is recommended you come in the afternoon. You can make an appointment for sample collection at either www.huslab.fi or by telephone on weekdays at the centralised HUSLAB appointment service, tel. 09 471 86800.

We recommend that you bring the baby's delivery record (Synnytyskertomus 2 SK2) along in order to confirm the baby's identity and to expedite the process. However, a sample can be obtained even if you do not bring the delivery record with you.

If the screening results come back abnormal, we will contact you. Your baby will then be referred to a doctor. You will not be notified of normal screening results.