Richmond Practice - Why screen infants for metabolic disorders?

Why screen infants for metabolic disorders?
Published in Families Upon Thames, December 2014

About 1:1000 newborn babies are born with a congenital metabolic disorder or an inherited genetic disorder, often to parents without a history of having a metabolic problem themselves. Many of those disorders can be treated, e.g. by specialised diets or medication when discovered early. Therefore, as part of the NHS service, newborn babies are routinely checked (with a heel blood test) for the five most common treatable metabolic disorders within their first week of life.

These disorders are cystic fibrosis, sickle cell disease, congenital hypothyroidism and further diseases. The test is also referred to as Guthrie test.

Although NHS testing covers the five most common treatable metabolic disorders, these five are only a fraction of the number of metabolic conditions that can be tested for today. Although these are rare, for the affected children early recognition and treatment are crucial, because without early diagnosis and treatment, such babies are at risk of developing a learning disability and even death, while early treatment allows them to develop normally in most cases.

The principle of the newborn metabolic screening test is to detect congenital metabolic disorders before a child develops symptoms and before permanent damage happens. It tests only for such metabolic disorders, for which there are established therapies that allow effective early treatment. About 41 such treatable disorders can be tested for today. Glutaric Acidemia Type 1 is one example: children with this defect in the metabolism of a specific amino acid (lysine) can remain undetected for years until they develop a sudden metabolic crisis that usually results in permanent brain damage and physical disability. When detected early, the crisis can be avoided by a special diet and the affected child can develop normally. The frequency of this condition is 1:30 000.

Consult your doctor:
  • if you have or are expecting a baby and want to know more
  • if you have metabolic conditions in your family
  • if you have questions concerning a specific metabolic disease.
How the tests are done?

To allow for the earliest possible treatment for affected children, at Elsbeth's Doctors bloods are sampled from newborn baby at 36-48 hours after birth, i.e. on day 2 of life, but later testing is possible. A sample from the heel can be used. Just a few drops of blood are applied to a special paper card and done by a doctor in Richmond and sent to Hesse (Germany) for analysis.

Results are available within a few days for treatment can sometimes be required in 21 days.

To book an extended new born metabolic disorder screen contact Elsbeth's Doctors on 030 0303 5009 or email us at