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.

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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PKU is the most common amino acid disorder. The screening test is very simply measuring phenylalanine from a blood spot on a newborn screening card from a heel stick. There’s a prerequisite. Children have to have taken in protein in the form of formula for at least 24 hours. If not, you’ll have a false negative. And in these days of early discharge from the hospital where kids barely get a little glucose to suck on, it’s very important to bring them back in the first few days of life to their primary care provider to get an adequate specimen, meeting the prerequisite. The diagnostic test is to do a quantitative plasma amino acid profile so that you can actually quantitate the amount of phenylalanine that’s there. You are all familiar with the clinical features; mental retardation, you can also see autism and seizures. The treatment is the lifetime, preferable, treatment of low phenylalanine in the diet. Just like the diabetics who count calories, these folks have to count grams of phenylalanine, grams of protein as well. The lifetime diet is optimal for yet another reason. High phenylalanine is teratogenic. Half of PKU patients are going to be female, and like most females, they like to grow up and have families and if they go off diet - although it may not harm them very much - this can lead to birth defects in the unborn child, even though the child does not have PKU. If the mother’s PKU, the phenylalanine, the phenylketones, the phenyl lactate across the placenta, are neurotoxic and can also cause some somatic disorders as well such as congenital heart disease. It’s very difficult to control pregnant mothers with PKU because the fetus is growing rapidly, you have to make sure you provide the fetus with enough protein, enough phenylalanine, but not too much. So we usually hospitalize these moms for a week or two to get them on diet. Hopefully they have been on diet before they got pregnant, because as you realize the first six weeks of gestation are the most critical in terms of neurologic development.
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