Doctor insights on:
Mucolipidoses Inherited Metabolic Disorders
What are the advantages and disadvantages of different treatments for inherited metabolic disorders?
Many types: Metabolic syndrome is insidious. Many features of disease are initially asymptomatic. High blood pressure in early stages is not perceived. Cholesterol issues are asymptomatic unless present for some time. Women may have symptoms of irregular menses, or increased facial hair, but may think this not too abnormal. If you have increasing weight, most on the gut, get checked out by your pcp. ...Read more
Depends: A screening test is a relatively simple & inexpensive test designed to narrow down the number of patients brought in for the more expensive specific tests. For every 10, 000 screened, 100 may show positive & secondary tests will show 2--3 with a real problem. The screen eliminated 99% that didn't need a specific test.The state notifies me of + screens & we get the tests.If a real pbm, rx is atarted. ...Read more
Unclear question,: But the general idea is that the body is interconnected by chemical messengers (factors) that travel in the blood between body parts and different organs e.g. Hormones, enzymes, interleukins, antibodies etc. Each of these has numerous subtypes. A whole heck of wrong could take place in these factos that travel among organs producing derangement. Note organs depend on each other in a way or another. ...Read more
Inherited metabolism: There are a huge variety of potential inherited metabolic disorders. Something could go wrong with just about every chemical reaction in your body. So there is no way to describe a treatment unless you can identify the specific chemical reaction that is being affected. ...Read more
Please repost: Please specify what kind of nystagmus you're referring to: horizontal, vertical, rotatory, downbeat, physiological, etc. Also please state what you mean by "metabolic disorders," and whether you have looked up the "differential diagnosis" of nystagmus on your own. Finally, it would help if you stated why you are seeking the information. ...Read more
The state does: In the US, each state screens different metabolic disorders... most will screen for the most common ones like PKU. Testing is done at the state lab and abnormal results are communicated to the primary doctor and in some states to the expert panel. ...Read moreSee 2 more doctor answers
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