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Doctor insights on: Symptoms Of Mucopolysaccharidosis

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What is mucopolysaccharidosis?

What is mucopolysaccharidosis?

Mucopolysaccharidosi: is a general term for a genetic defect of enzyme production that causes several syndromes with a variety of characteristics that can overlap from one form to the other. They include face and head abnormalities, heart defects, developmental delay, intellectual impairment, skeletal abnormalities, enlarged liver/spleen, enlarged tongue, hernias and abnormal posture. ...Read more

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 does mucopolysaccharidosis (mps) do?

What does mucopolysaccharidosis (mps) do?

Many symptoms: Mucopolysaccharidosis refers to multiple different disorders in which there is a problem with the breakdown of certain types of sugar molecules. There are too many disorders and symptoms to list here. Please see: http://www.Mpssociety.Org for more information. Detailed information is also available at this site: http://ghr.Nlm.Nih.Gov/search?Query=mucopolysaccharidosis&search=. ...Read more

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What should I know about mucopolysaccharidosis?

What should I know about mucopolysaccharidosis?

Many diseases: Mucopolysaccharidosis refers to multiple different disorders in which there is a problem with the breakdown of certain types of sugar molecules. There are too many disorders and symptoms to list here. Please see: http://www.Mpssociety.Org for more information. Detailed information is also available at this site: http://ghr.Nlm.Nih.Gov/search?Query=mucopolysaccharidosis&search=. ...Read more

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What does it mean if there was a trace of mucopolysaccharidosis?

What does it mean if there was a trace of mucopolysaccharidosis?

Hmmmm.....: "Trace" is not a word commonly used in the description of genetic disorders. The terms 'mosaic' and 'partial' are used to describe less severe forms of a genetic disorder in which not all of the particular chromosomes are affected. In the case of a lysosomal storage disease, 'trace' may be referring to only partial disruption of enzyme production (as with Morquio). Hope this helps.... ...Read more

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Hi doctors, can you tell me what is mucopolysaccharidosis (mps)?

Hi doctors, can you tell me what is mucopolysaccharidosis (mps)?

A group of inherited: metabolic diseases, the genetic defects of the mucopolysaccharidoses cause defective or missing enzymes needed to break down complex sugar molecules. These accumulate in harmful amounts in body cells & tissues, causing permanent, progressive cellular damage that affects appearance, physical & mental abilities, & functions of various organs. See http://mpssociety.org for specific disorders. ...Read more

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Can mucopolysaccharidosis type i disease severity be predicted based on a patient's genotype?

Can mucopolysaccharidosis type i disease severity be predicted based on a patient's genotype?

Sometimes....: Too complex to address in 400 characters. See http://www.Ncbi.Nlm.Nih.Gov/books/nbk1162/#mps1.Genotypephenotype_correlations in general, there are alleles that correlate with a severe phenotype, a milder phenotype, and then there are many other mutations where it is difficult to predict. ...Read more

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Can you treat mucopolysaccharidoses by becoming a vegetarian?

Can you treat mucopolysaccharidoses by becoming a vegetarian?

No: Mucopolysaccharisosis is a genetic disease; there are several forms but all of them are brutal. Life becomes even more difficult when some well-intentioned but ignorant person suggests vegetarianism in the mistaken belief that it benefits most/all illnesses there are moral advantages, but it won't touch the underlying problem. You have my sympathy. ...Read more

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I am a nervous wreck. My daughter has mucopolysaccharidoses. Can you tell me about it?

I am a nervous wreck. My daughter has mucopolysaccharidoses. Can you tell me about it?

Which one???: Mps are a group of disorders marked by buildup of material in cells that can't move out because the enzymes needed for their breakdown were not coded into the kids dna. Most patients face a gradual deterioration of function as they age.Some rx is available. Your best outcomes are available when you are followed thru a metabolic disorder clinic where the team can provide your local dr with guidance. ...Read more

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What causes mucopolysaccharidoses?

What causes mucopolysaccharidoses?

Mucopolysaccharidosi: is a general term for a genetic defect of enzyme production that causes several syndromes with a variety of characteristics that can overlap from one form to the other. They include face and head abnormalities, heart defects, developmental delay, intellectual impairment, skeletal abnormalities, enlarged liver/spleen, enlarged tongue, hernias and abnormal posture. ...Read more