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.
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The successful management of inborn errors has many components to it. Early detection is the key. You can’t treat these diseases until you diagnose them. So you must have an index of suspicion. You have to educate the family, especially if there is a special diet involved or special medications involved, they must be compliant. The need financial and social support. If the medications or the formulas are expensive and if the family has to bear that burden, they may not be as compliant as you’d like. You have to anticipate that they may get very sick with trivial illnesses, colds, flu. Kids with urea cycle disorders or some of the organic acidurias can really go into a tailspin with just a very simple classroom illness. So these kids are admitted frequently to the hospital for acute management. You have to institute the treatment early, whether it is dietary or pharmacologic or both. Then they need to be followed periodically in a referral center to get complete nutritional assessment. To make sure that they have the right amount of protein for growing or to make sure that they are compliant with their medication.
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In terms of Hurler’s, the diagnostic test is to measure the enzyme iduronidase, which can be measured in blood as well as from a skin fibroblast cell line. The clinical features: progressive, coarse facial features. So-called gargoylism. Corneal clouding, loss of milestones, severe mental retardation, hepatosplenomegaly, hirsutism, hernias and these multiple bony changes. So dysostosis multiplex. Complications include recurrent pneumonia because of thick secretions, congestive heart failure because of valvular involvement, and in the case of Hurler’s, usually death by the age of ten. Note that there is a milder form of MPS-1, iduronidase deficiency, called Scheie syndrome which shares the same enzyme defect but does not present with mental retardation. Now biochemically you can’t distinguish between Hurler’s and Scheie’s because in both you have a gross deficit of iduronidase. But clinically they are different because Scheie’s is milder. Pink viagra
The mucopolysaccharidoses present sometimes with growth delay, with organomegaly, corneal clouding, joint stiffness. The more severe manifestations include hirsutism or increased body hair, loss of milestones and these gargoyle-like coarsening features.
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