How do we treat urea cycle disorders, without going through all five of them? Three key points. First of all, we need to prevent protein catabolism because these infants, if they don’t get enough calories they break down their own muscle protein, and in the process of doing that generate more ammonia. That’s the last thing you want to happen. So you have to pump these kids full of calories in the form of fat and carbohydrates. If the urea cycle is impaired, arginine then becomes an essential amino acid and if you don’t supply the arginine they are going to break down their own protein to make new proteins. So that’s why you have to supplement them with arginine. You have to decrease the ammonia load going in. So again, you have to restrict the amount of protein in their diet to a reasonable amount. Lastly, we can utilize these pharmacologic ammonia scavengers - which were discovered serendipitously about 15, 20 years ago - in the form of sodium benzoate and sodium phenyl acetate. Benzoate actually binds to glycine, which is the smallest amino acid that has ammonia as part of it - nitrogen is part of it as do all amino acids - and conjugates with that and excretes it into the urine. Herbal Testosterone
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Tay-Sachs. The incidence used to be about 1:4,000 among Ashkenazi Jews because the carrier frequency is quite high. The screening test is to measure hexosaminidase A in the serum, and the clinical features you must be familiar with. Hyperacusis, or increased startle reflex, progressive weakness or hypotonia, visual loss, the cherry red macula, macrocephaly and usually early death, because this is untreatable. Primary defect we know is in the alpha _ and hexosaminidase A, and if you have a defect in the beta sub-unit, that knocks out both hex-A and hex-B and results in Sandhoff’s disease, which is another gangliosidosis. It used to be that Tay-Sachs was only seen in the Ashkenazi Jewish population, but in the late 1960s and early 1970s screening programs were set up which were centered in synagogues. The Jewish community and the leaders embraced this screening program and engaged in pre-conceptual counseling, prenuptial counseling, to the point where it was very successful. Because the Jewish community has embraced the screening program - and has even consented to terminating affected pregnancies, which was quite surprising - that we seldom see Tay-Sachs in the Ashkenazi Jews anymore because the screening program is so effective. So we see it in these other unusual populations. We see it in Hispanics, we see it in blacks, because there is a much lower carrier frequency in other populations. Probably in order of magnitude or two less than this. But there is still that chance that two carriers will get together.
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There was a treatment touted a few years ago, something called Lorenzo’s oil, which is a dietary supplement consisting of monounsaturated long chain fatty acids. The theory here was to decrease the amount of very long chain fatty acids by putting in not quite so long chain fatty acids into the diet and making them monounsaturated so they have a single double bond here. This was thought to decrease the amount of saturated very long chains. The problem with Lorenzo’s oil is it doesn’t cross the blood-brain barrier. So although if you measure in plasma, the very long chains, you may see an improvement. You really don’t have much affect on the CNS and that’s very often the case in many of these metabolic disorders which affect the central nervous system. You can make them look better on paper if you are measuring blood, but that’s not what’s going on in the brain. Also bear in mind that palliative treatment of course is to replace the corticosteroids which are deficient. Now there is also a neonatal form of adrenoleukodystrophy, which is autosomal recessively inherited, and it resembles Zellweger’s. Zellweger’s is not as common as ALD so in the interests of time, I chose to illustrate this case rather than a case of Zellweger’s. Although we’ve seen two cases of Zellweger’s in the last six months at Vanderbilt. Not a good thing to have.
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