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Doctor insights on: Mucopolysaccharidoses Inherited Metabolic Disorders

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Dr. Herbert Fuchs
38 doctors shared insights

Mucopolysaccharidoses (Definition)

An inherited metabolic disorders affecting a type of complex carbohydrate called a mucopolysaccharide that is deposited in body tissues because the person lacks the specific enzyme needed to metabolize it. Deposition of mucopolysaccharide in tissues damages and distorts them, stunts the child's growth and development, ...Read more


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What types of inherited metabolic disorders?

What types of 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

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How will inherited metabolic disorders affect other parts of my body?

How will inherited metabolic disorders affect other parts of my body?

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

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Are there good natural treatments for inherited metabolic disorders?

Too vague: There are many different kinds of inherited metabolic disorders, so unfortunately, it can't be answered. Generally though, there are no natural treatments. ...Read more

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What are the advantages and disadvantages of different treatments for inherited metabolic disorders?

Depends: Pros and cons of the treatment will depend on the specific metabolic disorder. There is no generalized treatment for all inherited metabolic disorders. ...Read more

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What is the result of neonatal screen positive in inherited metabolic disorders?

What is the result of neonatal screen positive in inherited metabolic disorders?

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

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How can therapy help with an inherited metabolic disorder?

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

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Which metabolic disorders can cause Nystagmus?

Which metabolic disorders can cause Nystagmus?

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

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Ideas of metabolic disorders testing?

Ideas of metabolic disorders testing?

Metabolic syndromeDx: Lipid panel, fasting glucose, hemoglobin a1c, and a fasting glucose to Insulin ratio. Finally, an exam to determine if you have an apple build and a family history.These last two are the most important to point to metabolic syndrome! ...Read more

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Are mitochondrial diseases considered metabolic disorders?

Are mitochondrial diseases considered metabolic disorders?

No: no, mitochondrial diseases related to certain internal cellular issues and their discombobulation's. Metabolic diseases include for the most part diabetes, obesity, Dysmetabolic syndrome, which are a separate type of disease process than internal internal cellular constituents such as mitochondria ...Read more

Dr. Anna-Kaisa Niemi
25 doctors shared insights

Inherited Metabolic Disorders (Definition)

Inherited metabolic disorders are caused by genetic mutations that cause abnormal metabolism, the process of making cellular energy or other necessary materials. These conditions can cause a range of severity in disease, but ...Read more


Dr. Al Hegab
7 doctors shared insights

Galactose Restriction (Definition)

Milk and milk products contain the sugar galactose. For babies who cannot tolerate galactose, this means avoiding breast milk and typical milk-based formulas. They can take some lactose-free formulas, including soy formulas ...Read more