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Rare Diseases And The UK: 4 New Newborn Screening Conditions

January 11, 2015


Newborn screening (NBS) identifies rare genetic or metabolic diseases that may affect a child’s health or survival. NBS tests newborns for medical conditions that can cause illness, developmental delays, and disabilities. By screening newborns, this can help to facilitate early treatment of rare diseases. Screening is performed on a sample of blood obtained by pricking the baby’s heel. The blood sample is usually taken within the first few days of life.

Presently, the UK screens newborns for the following 5 diseases:

•   Congenital Hypothyroidism (CHT)

•   Cystic Fibrosis (CF)

•   Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD)

•   Phenylketonuria (PKU)

•   Sickle Cell Disease (SCD).

Starting January 5, 2015, all babies in England are offered screening for the following 4 additional rare genetic diseases:

•   Glutaric Acidaemia Type 1 (GA1)

•   Homocystinuria (HCU)

•   Isovaleric Acidaemia (IVA)

•   Maple Syrup Urine Disease (MSUD).

All four rare diseases are inherited conditions where babies have problems breaking down amino acids of proteins. The rare diseases all have a ranging set of conditions that can “start with poor feeding and result in a coma or brain damage if untreated.” By adding these four additional diseases, it will make a tremendous difference to the lives of children and their families. Also, experts claim that it will result in the savings of treatment costs to the National Health Service (NHS), because the rare conditions are found before the children get sick and this can help to facilitate early treatment of the rare diseases.

According to Public Health Minister Jane Ellison:

“This is really welcome news. Expanding the screening has the potential to make a huge difference to the lives of babies born with rare genetic disorders. Detecting the disorders early can help prevent babies being severely disabled or even dying, which is absolutely vital for the families affected.”

Please Note: “Tiny Foot”  by Pawel Loj, Let Grow Therapy and Counseling – Helping Children To Thrive (Atlanta, GA, USA) [CC-BY-2.0]  | via Wikimedia Commons.

Copyright © 2012-2014, Orphan Druganaut Blog. All rights reserved.

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