The programme screens for 28 metabolic disorders as summarised in the table below.
If your baby does have one of these problems, then much more information about the disorder and how to treat it will be given to you.
For more information see the pamphlet Your Newborn Baby's Blood Test
Amino acid Disorder: Maple Syrup Urine Disease (MSUD) Amino acid Disorder: Phenylketonuria (PKU) Other amino acid disorders*
Metabolic disorder
Caused by
Can lead to
Treated by
Chances
Biotinidase Deficiency
Lack of an enzyme (leading to a deficiency of biotin)
Life-threatening complications
Taking vitamin H (biotin)
1 in 50,000 newborn babies
Congenital Adrenal Hyperplasia (CAH)
There is a lack of an enzyme in the adrenal gland
Life-threatening complications
Steroid medication
1 in 20,000 newborn babies
Cystic Fibrosis (CF)
Abnormal secretions in lung, pancreas, and other parts of the body
Poor growth, chest infections and shortened life
Medicine and physiotherapy to keep the lungs healthy
1 in 3,000 newborn babies
Galactosaemia
An enzyme defect prevents normal use of milk sugar
Jaundice, cataracts and life-threatening illness
Special diet: replacement of milk-containing foods
1 in 120,000 newborn babies
Hypothyroidism
Not enough normal thyroid gland
Slowed growth and mental development
Taking thyroid hormone
1 in 4,500 newborn babies
An enzyme is missing
Life-threatening complications
Special diet
1 in 250,000 newborn babies
An enzyme is missing from the liver. Without this enzyme an aminoacid (called phenylalanine), which is found in all protein, rises to harmful levels
Brain damage
Special diet
1 in 15,000 newborn babies
Each disorder is caused by a missing enzyme. Without the enzymes, waste products such as ammonia rise to harmful levels
Life threatening complications
Special diet including extra vitamins
1 in 12,000 newborn babies
Fatty acid oxidation disorders**
Each disorder is caused by a missing enzyme. Without these enzymes energy cannot be used from fats. Without energy from fats, the body can run out of energy
Brain damage and life threatening disorders
Regular feeding
1 in 12,000 babies
*Other amino acid disorders include:
**Fatty acid oxidation disorders include: