Four rare diseases added to newborn screening

"Newborn babies to be tested for rare diseases," reports BBC News online. The news is based on an announcement by the UK's National Screening Committee (NSC), which has recommended screening every newborn baby in the UK for four additional genetic disorders as part of the existing newborn screening programme. This means expanding the NHS Newborn Blood Spot Screening programme to include screening for homocystinuria, maple syrup urine disease, glutaric aciduria type 1 and isovaleric acidaemia.   What conditions are being screened for? Homocystinuria Homocystinuria causes a build-up of the amino acid homocystinuria in blood and urine. Left untreated it can cause bone damage, visual problems and brain damage. These symptoms can usually be prevented with prompt diagnosis and treatment. Maple syrup urine disease Maple syrup urine disease is a rare disorder affecting around 1 in 185,000 children. It disrupts the normal functioning of amino acids inside the body. Symptoms can range from the relatively mild, such as vomiting, to severe, such as seizures and coma. The condition can normally be controlled through a specialist diet. Glutaric aciduria type 1 Glutaric aciduria type 1 is a genetic condition associated with amino acids dysfunction. Symptoms include muscle spasms and bleeding inside the eyes and the brain. The condition can be treated using a combination of medication and occupational therapy. Isovaleric acidaemia Isovaleric acidaemia is another genetic a...
Source: NHS News Feed - Category: Consumer Health News Tags: Genetics/stem cells Pregnancy/child QA articles Source Type: news