Diseases, Disorders information

Biochemical disorders are caused by genetically determined defects, usually in an enzyme, although sometimes they are in receptors or other parts of the pathway. Unfortunately sometimes the body makes toxic substances. In the case of PKU, the body makes phenylactate and phenylpyruvate, which are neurotoxins. So it has decreased phenylalanine a little bit but it has made some toxic substances in the meantime. This is not good. So these are alternative so-called salvage pathways which are often not such a good idea.
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How do inborn errors present? They present a number of different ways. They can present acutely as metabolic disease of the newborn. This is when you have a child that looks like he has sepsis. You give him antibiotics and he does not get better. They can be progressive disorders which present with gradual organomegaly, loss of milestones. They can present chronically with failure to thrive or mental retardation. They can even be late or benign, such as hypercholesterolemia which does not present in childhood or adolescence but usually in adulthood.
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There are so many metabolic diseases but in most states in the United States only three are screened for in the newborn period. These are PKU, galactosemia, and hypothyroidism. Why just those three? Why don’t we screen for pipecolic aciduria? Well, they are very rare. That’s one reason. Another reason is that there is not a darn thing you can do about it, and the third reason is there is no cheap screening test. So these are the principles that we have to deal with. First of all, it must be a serious disease. It has to be preventable or treatable. You have to do something about it. We could screen all newborns for Huntington’s disease but don’t because there is nothing we can do about it. Lastly, the methods for screening must be practical, cheap, available to the population. You have to be able to teach state employees how to run these things, who sometimes have trouble licking a stamp. And you must understand the inheritance and the pathogenesis so you can explain it to families when you do ascertain cases. There has to be a high benefit-to-cost ratio, so all these tests are relatively cheap. They cost pennies to do, and there must be a very high sensitivity and specificity. You don’t want to miss cases. You’d rather have false positives than false negatives. Screening for PKU, galactosemia and hypothyroidism meet all these criteria and there are very few others that do. There are some states that have PET screening programs for someone’s favorite disease. There is someone in that state has a grant to cover the cost of the screening. So the state of Virginia can screen for MCAD and a few other interesting metabolic diseases, but most states don’t have the funds to do so.
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