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Doctor insights on: Mucopolysaccharidoses Inherited Metabolic Disorders

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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. Herbert Fuchs
45 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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Is gaucher's disease a metabolic or genetic disorder?

Is gaucher's disease a metabolic or genetic disorder?

Both: Gaucher disease is passed as an autosomal recessive genetic defect. It involves improper coding for an enzyme that would otherwise process and remove excess buildup of glycolipids from a variety of cells in the body. ...Read more

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How are diagnoses of lysosome storage disorders differentiated from congenital disorders of glycosylation? References?

How are diagnoses of lysosome storage disorders differentiated from congenital disorders of glycosylation? References?

Difficult to differe: Lysosome storage disease, congenital disorders of glycosylation (cdg), peroxisomal disorders, smith-lemli-opitz are "single-gene disorders, most of which demonstrate autosomal-recessive inheritance. These 4 categories of metabolic diseases involve molecules important in cell membranes and share overlapping clinical presentations". (avery's diseases of the newborn, by w. Taeusch, 2005, p. 258). ...Read more

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Are mental disorders genetic?

Are mental disorders genetic?

Genetic Influence: There is evidence for genetic predisposition in mood disorders like depression & bipolar disorder; anxiety disorders; and schizophrenia. There may be some in alcoholism also. Having 1st degree relatives with a condition does not mean you will develop it though, because genes are not the only important influence. Environment, nutrition, and lifestyle play a huge part in how things show up. ...Read more

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Are thyroid disorders genetic?

Are thyroid disorders genetic?

Most are: Hashimoto's and graves disease are classic hypothyroidism and hyperthyroidism respectfully and are autoimmune in nature. You inherit and hla antigen which predisposes you to their development from your parents. You may never develop disorder. Of course if you remove your thyroid, you would have a low thyroid condition, in addition there are multiple drugs that can contribute to thyroid dysfunction. ...Read more

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How come wilson's disease (hepatolenticular degeneration) considered a genetic disorder?

How come wilson's disease (hepatolenticular degeneration) considered a genetic disorder?

Because it is: No disrespect is intended. Two defective copies of the gene atp7b, one from each carrier parent, renders the person incapable of unloading copper from cells that need to lose it. ...Read more

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Which type of genetic disorder is raynauds disease?

Which type of genetic disorder is raynauds disease?

Vascular Disease: While there is an obvious genetic predisposition for everything that happens to us, raynauds disease involves spasm of the muscular lining of the arteries. In cold weather they shrink, and hot weather makes them dilate but they do so maximally. Ask your dr. About Pletal (cilostazol) which has shown excellent results in treatment. ...Read more

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Genetic disorder hht?

Genetic disorder hht?

HHT is genetic: Hht also known as hereditary hemorrhagic telangiectasia is a genetic condition that causes differences in how blood vessels are formed causing so-called arteriovenous malformations (avms) which on skin are called teleangiectasias, thus name of condition. Currently three genes are known to cause it. Nih site has good info: http://ghr.Nlm.Nih.Gov/condition/hereditary-hemorrhagic-telangiectasia. ...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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Are muscular dystrophy diseases inherited?

Are muscular dystrophy diseases inherited?

Yes, virtually all: Heredity varies from autosomal dominant to recessive and a few sex linked, but these are indeed genetically mediated muscle disorders. ...Read more

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Dr. Alan Ali Dr. Ali
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Which type of genetic disorder is bipolar disorder?

Dr. Alan Ali Dr. Ali
4 doctors agreed:
Which type of genetic disorder is bipolar disorder?

Genetics of Bipolar: Although results inconsistent, many earlier studies suggest chromosomal aberrations (specifically chromosome 6q & 8q21). Most studies suggested heterogeneity (several genes involved, specifically those for serotonin, Dopamine & glutamate. Also, there is strong correlation with advanced paternal age, suggesting genetic mutations. ...Read more

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Is homocystinuria a genetic or chromosomal disorder?

Is homocystinuria a genetic or chromosomal disorder?

See below: Homocystinuria is a genetic disorder which affects the metabolism of the aminoacid methionine. It is inherited as a autosomal recessive trait trait, ie the child must inherit the non working gene from both the parents to be affected. It presents as failure to thrive, mental retardation, visual problems and bone problems. ...Read more

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What type of genetic disorders are tay sachs disease and canavans examples of?

Genetic diseases: Tay sachs is an autosomal recessive genetic disease. It is a disease of the nervous system and is a member of the sphingolipidoses. Canavan disease is different autosomal recessive genetic disease of the nervous system and is a member of the leukodystrophies. Eastern european (ashkenazi) jews have a higher carrier rate for both of these diseases than the average population.Seek genetic counsiling. ...Read more

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How are genetic disorders diagnosed?

How are genetic disorders diagnosed?

Clinical skill: Physicians with expertise in a specialty will have knowledge of genetic disorders common to their specialty. A hematologist will recognize hemoglobinopathies, a plastic surgeon recognizes genetic disorders which require facial repair, a neurologist may diagnose neurological degenerative disorders. A clinical geneticist is the general practitioner of genetics--and can help diagnose unknowns. ...Read more

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Are parathyroid disorders hereditary?

Are parathyroid disorders hereditary?

Yes and no: Parathyroid disorder can occur in anyone but it could also be hereditary (that is if a family member has hyperparathyrodiism, you are at higher risk of developing the disease). There is also a condition called men (multiple endocrine neoplasm) that can increase your risk of parathyroid disease if someone in your family has it. ...Read more

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Is tay-sach's disease associated with developing other genetic conditions?

Possibly: Because tay-sach's disease is one of several genetic diseases that can occur in people of ashkenazi jewish background, when screening is done for this disorder, usually several other disease states are screened for as well. This is a very complicated area to discuss and genetic counselling is best left to experts in this area. ...Read more

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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?

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?

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. Theodore Davantzis
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