Newborn babies are to be screened for an additional four genetic disorders in England under new guidelines announced by the UK National Screening Committee.
These are homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) and isovaleric acidaemia (IVA).
The recommendations will allow for early detection and treatment, preventing babies affected from dying or being severely disabled.
Anne Mackie, director of programmes for the UK NSC, said: "We are delighted to announce our recommendation to expand the programme. We supported a pilot to look into the impacts of screening for these conditions.
"Since the start of the pilot in July 2012 more than 700,000 children in England have been tested for these disorders and 47 possible cases identified with 20 confirmed. We will help similar numbers each year now the extension is being rolled out."
The pilot programme took place at Sheffield Children's NHS with further analysis performed by the University of Sheffield's Health Economics and Decision Science section.
Analysis showed the screening would provide increased quality of life as well as being cost-saving.
The programme screened over 700,000 babies for the new diseases. Prior to the changes, babies born in England had a heel prick blood test at five to eight days old to look for phenylketonuria (PKU), congenital hypothyroidism (CHT), sickle cell disease (SCD), cystic fibrosis (CF) and medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
Jim Bonham, national lead for the pilot project, said: "As a result of this study 20 children with serious but treatable disorders were discovered. We are delighted with the results because it shows how we can make an enormous difference for these children and their families, in some cases giving them the gift of life."
What are the diseases?
Maple syrup urine disease – an inherited disorder where the body is unable to process certain amino acids properly. The name of the condition comes from the sweet odour of the baby's urine. Babies appear healthy at birth, but if untreated the disease can lead to seizures, coma and death. Symptoms include vomiting, dehydration and lethargy.
Homocystinuria – a rare inherited metabolic disorder that leads to an increased blood and urine concentration of the sulphur-containing amino acid homocysteine. Babies appear normal at birth but go on to develop serious complications in childhood. The defect leads to disorders in the connective tissues, muscles, central nervous system and cardiovascular system.
Glutaric acidaemia type 1 – an inherited disorder where the body cannot process certain proteins properly, leading to inadequate levels of an enzyme that breaks down the amino acids lysine, hydroxylysine, and tryptophan. Excessive levels of these amino acids then leads to damage to the area of the brain that helps control movement and can affect intellect. Symptoms normally appear in infancy or early childhood, but can occur later in life.
Isovaleric acidaemia – A rare disorder where the body is unable to process some proteins properly. This leads to the build-up of organic acids in the blood that cause serious health problems. A classic feature is the odour of sweaty feet. In most cases symptoms start appearing within a few days of birth, including vomiting, seizures and lack of energy leading to coma.