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As part of meatbolic awareness week over in the UK, I thought I’d write this blog for people who want to know more about meatbolic diseases and what we, as medics, hope the future holds for them.
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In recent years, many genetic mutations have been discovered that lead to metabolic disorders. It is now scientifically possible for individuals or couples to choose to be tested for these genes, this is usually a route only taken by people who have these diseases running in their family. This is to give parents more information about the likelihood that their children will develop such diseases.
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One such disorder occurs when newborns are missing a particular gene that helps metabolize the amino acid phenylketonuria (PKU). The build up of dangerous levels of PKU, and the resulting brain damage, can be prevented with a strict diet. Heel prick testing is common practice in most developed countries for all newborns, this is to discover PKU at as young an age as possible and this compulsory testing has greatly reduced the damage from this relatively common metabolic abnormality.
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There are other benefits to diagnosing metabolic diseases as soon as possible in addition to prompt treatment, if it is available. Early identification can also minimize the amount of testing a child has to undergo throughout their childhood, and can provide parents, Health Care Professionals, and teachers with a clearer picture of what to expect in the future. This is why it is so important to catch these diseases early.
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In the future we may be able to screen newborns for many more diseases, letting doctors start more treatment before a child has suffered symptoms and possible brain damage. Similarly, genetic tests for carriers should enable more couples to be aware of genetic risks to their offspring, and permit prenatal diagnosis. This is an ethical question though and should be one answered on a case by case basis, taking in to account the best interests of the parents and, more importantly, the child