Diseases, Disorders information

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.
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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.