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Doctor insights on: Medicine For Homocystinuria

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What is homocystinuria?

What is homocystinuria?

Inherited disorder: Homocystinuria is an inherited disorder of metabolism that results in elevated levels of homocysteine which gets excreted in the urine. Here is a good link that gives more info than my 400 words allow.
http://www. Ncbi. Nlm. Nih. Gov/pubmedhealth/pmh0002179/. ...Read more

Dr. Valentina Medici
38 Doctors shared insights

Homocystinuria (Definition)

Homocystinuria = cystathionine beta synthase deficiency. An inherited disorder in which an enzyme required for metabolism of food is deficient, leading to a buildup ...Read more


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What are the tests for homocystinuria?

Homocystinuria: You check Amino Acid screen of blood and urine. You can do genetic testing because its usually an autosomal recessive disease (both parents have the gene). Sometimes a liver biopsy with enzyme assay can show the disorder. ...Read more

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What are the symptoms of homocystinuria?

Inherited disorder: Homocystinuria is an inherited disorder of metabolism that results in elevated levels of homocysteine which gets excreted in the urine. Here is a good link that gives more info than my 400 words allow.
http://www. Ncbi. Nlm. Nih. Gov/pubmedhealth/pmh0002179/. ...Read more

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What are some interesting info about homocystinuria?

What are some interesting info about homocystinuria?

Inherited disorder: An abnormality of an enzyme that converts methionine (an amino acid) results in elevated levels of this compound. May be associated with connective tissue disease, heart and brain abnormalities, as well as eye problems and early blood vessel blockage or clotting. There is no known cure, but life expectancy is reduced only if untreated, usually with modified diet, vitamin b6, or frolic acid. ...Read more

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What is the definition or description of: Homocystinuria?

Homocystinuria: Homocystinuria = cystathionine beta synthase deficiency. An inherited disorder in which an enzyme required for metabolism of food is deficient, leading to a buildup of homocysteine in blood. ...Read more

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What is the treatment for homocystinuria?

Homocystinuria: Often people will respond to hight doses of vitamin b6 (pyridoxine). Also a low methionine diet is necessary. Trimethyglycine (betaine) is also taken. ...Read more

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How can a teenager cope with homocystinuria?

How can a teenager cope with homocystinuria?

Vitamin supplement: Homocystinuria is an inherited disorder of the metabolism of the Amino Acid methionine. This defect leads to a multisystemic disorder of the connective tissue, muscles, cns, and cardiovascular system. The life expectancy is reduced only if untreated. Treatment includes high doses of vitamin b6, b12, and folic acid. Some require a low methionine diet and adding cysteine to diet can be helpful. ...Read more

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What are signs and symptoms of homocystinuria?

Homocysteinuria: Homocysteinuria is a cystathionine beta synthase deficiency that causes inability to metabolize methionine. Symptoms are often failure to thrive or developmental delay in infants. Visual problems occur. Chest deformity, high foot arches, knock knees, spidery fingers (arachonodactyly), tall, thin build, mental disorders, blood clots and dislocated lenses of the eyes. ...Read more

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Any doctors out there with experience homocystinuria?

Any doctors out there with experience homocystinuria?

Yes: Many rheumatologists, nephrologists, as well as cardiologists and internal medicine doctors are aware of this condition, which may be a manifestation of other diseases rather than a specific "disease" in itself. Knowledgeable health care providers can help you determine the significance of this finding. ...Read more

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Is homocystinuria a gene disorder?

Is homocystinuria a gene disorder?

Yes: Homocystinuria is an inherited genetic disorder that impairs the metabolism of the Amino Acid methionine. It is a recessive disorder, which means that you have to have two faulty copies of the gene (inherited singularly from each parent) to be cinically affected. ...Read more

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Is a homocysteine level of 12 kind of on the high end for someone in their 20s? Can it be associated w osteoporosis and homocystinuria?

Is a homocysteine level of 12 kind of on the high end for someone in their 20s? Can it be associated w osteoporosis and homocystinuria?

No: Normal levels of homocysteine is below 15. Increased levels of this amino acid are associated with early onset blood vessel plaque and blood clots that can cause heart attacks, strokes and blood clots in other areas as well. It is not associated with osteoporosis. Homocysteinuria is a genetic disease associated with multiple birth defects including mental retardation. ...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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Is homocystinuria a gene problem or chromosomal disorder?

Is homocystinuria a gene problem or chromosomal disorder?

Both: The genome is made out of chromossomes which carry dna from both parents.
This has similarities to Marfan syndrome and it is of dominant inheritance so 50% chance of passing it to the next generation. ...Read more

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Medicine for memory?

Medicine for memory?

Meds for memory: There really is no medication specifically for memory. There are medications that can help improve concentration. Some holistic stores sell natural supplements that promote themselves as good for memory. ...Read more

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What is category x drug?

What is category x drug?

Do not use if pregna: Category x drugs are contraindicated for use in pregnancy due to studies demonstrating evidence of serious fetal abnormalities in animals, humans, or both such that fetal risks clearly outweigh maternal benefit. Check out http://www. Empr. Com/drugs-contraindicated-in-pregnancy/article/125914/ for more info, including partial list. ...Read more

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What is topical medicine?

Outside: It's a medication or substance that goes on that outside such as creams, ointments or drops. ...Read more

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What is the best medicine?

What is the best medicine?

Laughter, of course: Sorry for the glib answer. Since there are thousands of medicines for thousands of conditions, could you be more specific in your question. Overall, I think antibiotics are one of the most amazing inventions in the history of mankind. ...Read more

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What is medicine for acidity?

What is medicine for acidity?

Mylanta: Try otc mylanta or tums (calcium carbonate). Beside medications eat on time. Avoid spicy food. Medications like asprin and Ibuprofen should be avoided. If symptoms persists see your doctor. ...Read more

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What drugs are safe and unsafe?

What drugs are safe and unsafe?

Many of them: This is not an easy answer since there are many drugs categorized as unsafe. The american porphyria foundation has good resources on drug safety: http://www. Porphyriafoundation. Com/testing-and-treatment/drug-safety-in-acute-porphyria. Just because a drug may be listed as unsafe doesn't mean it's unsafe for everyone. However, it's important to use caution with any drug that is potentially unsafe. ...Read more

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What is best medicine for dadar?

What is best medicine for dadar?

Dadar??: Could you possibly mean dandruff? I'm sorry I don't know what dadar is. .. please resubmit for clarification, at least to me:) ...Read more

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What is the best medicine for pe?

What is the best medicine for pe?

Blood thinner: For PE (pulmonary embolism), there are many options including aspirin, Coumadin, (warfarin) Xarelto, Pradaxa, Lovenox, Arixtra, unfractionated heparin. Which is better depends on your specific case and cannot be stated at this point. ...Read more

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Do all medicines come from plants?

No: But many medicines do come from plants. ...Read more

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Is there any organic medicine yet?

Yes: But you have to be really careful. Because there is not enough study. Medicine is a science based on the evidence. ...Read more

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Is oxyplatin a good drug for mcrc?

Is oxyplatin a good drug for mcrc?

Yes: It is one of the chemo agents used in conjunction with Xeloda (capecitabine) (oral 5FU) or in the chemo combination with Folinic acid, 5 FU and the oxaliplatin as FOLFOX. The platinum targets DNA but in tumors the localization site is on tumor membrane where DNA localizes possibly in the form of mutated mitochondrial DNA ...Read more

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