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Adorable little babies saved by mass spectrometry

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I haven’t jumped back into science blogging in almost a year now. So I figured I may as well start with an eye-catching headline.

Wait, I was going to tell you about analytical chemistry, right? It’s a field of study where we do exactly what it sounds like: We analyze chemicals. You may also see the term chemical analysis which makes it a bit more clear. If you have a sample, and inside that sample there are substances that you need to identify (what is it?) or quantify (how much?), you turn to an analytical chemist.

One of the analytical chemist’s tools is the mass spectrometer, or MS. Depending on the type of MS, you can start with a solid, liquid or gaseous sample and answer questions about the atoms or molecules inside of it. But why do you care? Well here are some examples of questions that might involve MS in answering them:

  • Does this multivitamin actually match what it says on the ingredients label?
  • Are there pesticides or toxic heavy metals in this produce that was grown half a world away in a country I’ve never been to?
  • Was this man’s death the result of a poisoning?
  • Are these children’s toys really lead-free and BPA-free?
  • Is the soil on this vacant lot too contaminated to plant a community garden?
  • Are there dangerous impurities in these street drugs?

So where do adorable little babies fit into this? And believe me, I have a stake in this, because last year my beautiful niece was brought into this world. There are a number of rare disorders that any child could be born with, and these are not always obvious to parents or health care providers. However these disorders do leave chemical traces in the blood or urine that can be detected very efficiently by MS. Critically, these disorders are treatable, but health outcomes are significantly improved with early detection. All newborns in Canada receive some type of newborn screening although the number of conditions detected vary from province to province.

One such disorder is called phenylketonuria or PKU. An individual with PKU cannot eat normal sources of dietary protein. All proteins are made up of chains of amino acids, and one in particular called phenylalanine is the culprit here. Most of us have an enzyme that transforms phenylalanine into another essential amino acid called tyrosine. PKU means that the enzyme is missing and instead phenylalanine builds up in the body. This buildup interferes with brain function, and untreated children will tend to be misread as developmentally disabled, hyperactive, and plagued with other lifelong chronic health problems. The blood levels of phenylalanine and tyrosine can be compared in an MS-based newborn screening program to detect PKU as soon as possible. Those with PKU must eat a low-protein diet supplemented with specially designed protein formulations which exclude phenylalanine. While this is not an easy road to follow, early detection and treatment of PKU can give a child the chance to grow up with normal brain function and live out a healthy life.

Mass spectrometry may not be adorable in its own right, but it is a powerful type of analysis that can save lives. Do you ever wonder what other secrets may lie in the innumerable atoms and molecules that make up the world around us?

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Written by Charles in Toronto

September 8, 2013 at 4:32 PM

Posted in Chemistry

Tagged with , ,