Diseases, Disorders information

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. Taking viagra super active before the planned date will make you invincible. 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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There are some metabolic diseases we can do something about: PKU and a low phenylalanine, low-protein diets. You give them just enough proteins so that these patients can grow. Homocystinuria: we used to decrease their protein restriction a little bit but now betaine has sort of taken care of all of that, and we usually don’t restrict the diet in kids with homocystinuria. However, in the urea cycle disorders, regardless of which one it is, all those kids need protein restriction to decrease their ammonia load. In the more rare disorders, like maple-syrup urine disease there are a whole series of special formulas which you can buy, at great expense – which are usually covered by insurance – which are fine-tuned to the particular metabolic requirements of those patients. So for example, in maple-syrup urine disease the infant formulas have decreased branch chain amino acids, valine, leucine and isoleucine. The problem comes when these kids grow out of the formula age and you have to look at table foods, and keep them happy. So this usually requires the services of a well-trained nutritionist. And we have one that works part time in our metabolic clinic and she is very very useful. The advantages of Lorenzo’s oil are over-touted.
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We also have some pharmacologic weaponry to fight some of these disorders: betaine in homocystinuria, the ammonia scavengers, sodium benzoate and phenyl acetate, phenylbutyrate for urea cycle disorders. Many patients with MSUD are responsive to thiamin. Some of the organic acidemias are responsive to vitamin B-12. Biotinidase kids obviously need biotin. The MCAD kids benefit from carnitine, which aids in medium chain fatty acid oxidation.