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

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
Amino acid Disorder: Maple Syrup Urine Disease (MSUD)	An enzyme is missing	Life-threatening complications	Special diet	1 in 250,000 newborn babies
Amino acid Disorder: Phenylketonuria (PKU)	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
Other amino acid disorders*	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:

• Argininosuccinic aciduria (argininosuccinate lyase deficiency)
• Citrullinaemia (argininosuccinate synthetase deficiency, citrin deficiency)
• Glutaric acidaemia type I (glutaryl-CoA dehydrogenase deficiency)
• Homocystinuria (cystathionine beta-synthase deficiency)
• 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCoA lyase deficiency)
• Isovaleric acidaemia (isovaleryl-CoA dehydrogenase deficiency)
• Beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency)
• 3-Methylcrotonyl-CoA carboxylase deficiency
• Methylmalonic acidurias (mutase deficiency, CblA, CblB, CblC, CblD defects)
• Multiple carboxylase deficiency (holocarboxylase synthetase deficiency)
• Propionic acidaemia (propionyl-CoA carboxylase deficiency)
• Tyrosinaemia  (fumaryl acetoacetase deficiency, tyrosine aminotransferase deficiency).

**Fatty acid oxidation disorders include:

• CACT (carnitine acylcarnitine translocase deficiency)
• Carnitine transporter defect
• CPT-I (carnitine palmitoyltransferase-I deficiency)
• CPT-II (carnitine palmitoyltransferase-II deficiency)
• LCHAD (3-hydroxy long-chain acyl-CoA dehydrogenase deficiency)
• TFP (trifunctional protein deficiency)
• MADD (multiple acyl-CoA dehydrogenase deficiency)
• MCAD (medium-chain acyl-CoA dehydrogenase deficiency)
• VLCAD (very-long-chain acyl-CoA dehydrogenase deficiency).