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Doctor insights on: Mucopolysaccharidoses Inherited Metabolic Disorders

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Dr. Herbert Fuchs
44 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 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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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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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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Do doctors screen for metabolic disorders after birth?

Do doctors screen for metabolic disorders after birth?

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 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

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What are the metabolic disorders that cause excessive weight gain?

What are the metabolic disorders that cause excessive weight gain?

Weight gain: They all reduce to eating more calories that you burn. Very simple. I would go to wikipedia and look up obesity for good discussion. ...Read more

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Does genetic/ chrosome testing detect metabolic disorders? How early are serious metabolic disorders usually detected? Usually by age 2?

Does genetic/ chrosome testing detect metabolic disorders? How early are serious metabolic disorders usually detected? Usually by age 2?

Talk to a DR : Or a geneticist about testing of metabolic disorders. Google online for more info. Severity varies on the presence of dominant vs. Recessive traits, sex linked chromosomes, strong family history etc.Some of these conditions can be detected at birth.Take care! ...Read more

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What kinds of doctors treat metabolic disorders (glutamate metabolism, nitrogen metabolism, methylation disorders)?

Methylation: Methylation disorders (mthfr and comt) can affect as much as 25% of the general population. Integrative medicine doctors will generally treat, also functional medicine and a holistic medicine. ...Read more

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What kind of metabolic disorders cause yellow teeth?

What kind of metabolic disorders cause yellow teeth?

Yellow teeth: I would start by consulting your own dentist and venture a guess that the source of your yellow teeth, while possible, is not related to any metabolic disorders. Having said that, see the following website to answer your question: http://dentalresource.Org/topic53stainedteeth.Html. ...Read more

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Is there any effect of weight loss surgery on metabolic disorders?

Is there any effect of weight loss surgery on metabolic disorders?

All do: Weight loss itself gives you a lot of good changes. All weight loss operations - when combined with a good lifestyle change - will prove positive for weight loss, diabetes, joint pain, and the heart. Good luck. ...Read more

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Any metabolic disorders in toddler that would cause a speech delay as only symptom?

Any metabolic disorders in toddler that would cause a speech delay as only symptom?

Nope: Not as an isolated symptom, no. Has your child had the Baylor screen? This screens for many metabolic and other disorders, I have been using it in my practice for many years for families that would like expanded newborn screening. http://www.baylorhealth.edu/Research/InstitutesCenters/IMD/ClinicalTests/SupplementalNewbornScreening/Pages/default.aspx ...Read more

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Dr. Steven Griggs
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