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Doctor insights on: Mucolipidoses 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. William Singer
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


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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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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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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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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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Connective tissue disorders--are they genetic or autoimmune?

Connective tissue disorders--are they genetic or autoimmune?

Likley: A combination of both in which genetics predispose you but a trigger or exposure which your body encounters turns on the autoantibodies. ...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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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 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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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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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 bipolar disorder?

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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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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Is atherosclerosis an autoimmune deficiency disorder?

Is atherosclerosis an autoimmune deficiency disorder?

No: No, it isn't; steroids don't help; in fact they hurt.Immunopressives don't help either. ...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

Dr. Kevin Crutchfield
19 doctors shared insights

Mucolipidoses (Definition)

A group of genetic metabolic disorders. Body is unable to process the turnover of various cell components. Includes ...Read more