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Doctor insights on: Homocystinuria In Children

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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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I am married in 1 year no children en problem in my health would you eat that type of food can be eat him in my husband and me?

I am married in 1 year no children en problem in my health would you eat that type of food can be eat him in my husband and me?

Chocolate: This is not scientific but neither is having babies! Try anything chocolate. Eat romantic foods. Avoid alcohol and stimulants. Relax. Enjoy being married without children. The more you relax and enjoy your spouse the better your marriage will be and the more prepared you we be to be a parent. You are learning patience and you will need it! OB doctors have solutions for you when wanted ...Read more

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I can have children?

I can have children?

Hopefully: If you want to have children but are not trying presently, there are some tests that can help tell you more. But the only way to absolutely prove one way or another is to attempt pregnancy with your partner. See your gynecologist: they can help you with the available tests. ...Read more

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Why children feel giddy?

Why children feel giddy?

Vertigo?: Many children get very dizzy at times without definite cause. Some are due to ear infections or ear fluid pressure. Other times it may happen because of spinning around. Episodic vertigo is a very dramatic event in some children when they look terrified and have to hold on for a few moments, then return to normal. This is usually benign but needs a good evaluation. ...Read more

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Why can't I have children?

Why can't I have children?

Consultation time: Time to consult with your ob/gyn or get a referral to a fertility center. Both you & your partner need to be evaluated. There are many possible issues & many available solutions. ...Read more

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Is 40 to old to have children?

Is 40 to old to have children?

Maybe, maybe not: Many women are quite successful in their pregnancies at 40.There is some reduced fertility & increased risk of complications, but if your basic health is good & you understand the increased risk of down syndrome, I don't see any reason to say it's too late. ...Read more

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What stops you from having children?

What stops you from having children?

STD's and PID: Sexually transmitted diseases can lead to pelvic inflammatory disease. PID can lead to later infertility. ...Read more

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Can icjd be passed on to your children?

Can icjd be passed on to your children?

CJD: The familial form can be inherited in @10% of cases, through gene mutation. ...Read more

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How to stop woomting and pain in children?

How to stop woomting and pain in children?

Vomiting: For a simple gastroenteritis, gut rest (nothing to eat or drink for 2-3 hrs) followed by small sips of clear fluids, frequently (goal depending on age of child 1-4 oz/hr). The presence of pain is more worrisome and I would recommend taking the child to their doctor for a hands-on examination to rule out anything more serious. ...Read more

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How would keep my guns away from children?

How would keep my guns away from children?

Safe/locks: A good gun safe can double as a home for some family valuables. There are a number of trigger locks and quick entry safes on the market that provide quick access but eliminate child entry. As mentioned, kids taught gun handling and safety as early as age 4 are less likely to play with any gun they find anywhere. ...Read more

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How frequently should children from 1-12 deworm?

How frequently should children from 1-12 deworm?

Unnecessary: Unless you live in a part of the world where infestation is endemic, this is unnecessary. ...Read more

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What are ringworns how do childern get ringworns

What are ringworns how do childern get ringworns

Ringworm: Ringworm is actually not caused by a worm at all, but is caused by a fungus that lives on the skin called tinea. People can get a tinea infection from skin to skin contact with an infected person or pet or by sharing personal items such as towels, clothing, and combs.

Clotrimazole is the generic name for the over the counter cream that treats ringworm. Apply 2-3 times a day for a few weeks until the lesion disappears completely and then some. Keep it covered for the first day of treatment (or longer if you want to) to prevent spread. Your child will need to see his doctor for a stronger medication if the ringworm is on his scalp, continues to spread after treatment at home or if it doesn't get better after 4 weeks of treatment at home. ...Read more

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Why did all of my children have lucey-driscoll syndrome?

Why did all of my children have lucey-driscoll syndrome?

Inherited or steroid: The common cause is congenital, but it can also be caused by maternal steroids passed on through breast milk to the newborn. It is different from breast milk jaundice (breast-fed infants have higher bilirubin levels than formula-fed ones). If inherited it is a recessive gene. ...Read more

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What are behavioral interventions for laziness in children?

What are behavioral interventions for laziness in children?

Structure: It is not necessarily that kids are "lazy". It may be as simple as a schedule and expectations problem. Some kids are in so many activities they are burned out and have little time for anything else. Most kids nowadays live to be on a wireless device and that takes a chunk of time. Have clear expectations of your child and let him know what they are. Unplug the tv, limit the phone gaming time. ...Read more

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Can children have tea?

Can children have tea?

Yes: Children may drink iced or hot tea - caffeine free and unsweetend varieties are preferred. ...Read more

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Can children use Vanos?

Can children use Vanos?

Age 12 & older: This topical corticosteroid is prescribed for adults & children age 12 & older with certain skin conditions. It can be used for up to 2 weeks in adults. I do not know if dermatologists lower the duration of use for teens. It should be used only by the patient for whom it is prescribed. ...Read more

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Can children use Luxiq?

Not recommended: Kindly don't try on children, medium potency steroid with multiple side-effects, need close monitoring by physician when treating an adult ...Read more

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Can children get rosacea?

Rosacea in children: Although the incidence of rosacea in adolescents and children is infrequent, such cases have been documented in the medical literature. Eyelid styes may be one form. Rosacea often runs in families, and rosacea sufferers would be wise to be on the lookout for early signs in children in order to seek diagnosis and treatment before the condition worsens. ...Read more

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Can children use Orapred?

Can children use Orapred?

Orapred: Orapred and similar oral steroids are frequently used in children and safe when appropriately dosed according to weight. Frequent use is not recommended. ...Read more

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How can children get UTIs?

How can children get UTIs?

UTI's in kids: Children do not get urinary tract infections for most of the same reasons that adults do. First and foremost, anatomical issues such as vesicoureteral reflux, posterior urethral valves and others issues must be investigated. Otherwise, UTI's in children are often due to poor hygiene/wiping, masturbation, infrequent diaper or pull up changes, or chronic urethral irritation. ...Read more

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Can children take adderal?

Can children take adderal?

Yes: Usually 6 years and older although there are a few 4-5 year old children on it. ...Read more

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Can children inherit AIDS?

Can children inherit AIDS?

? inherit?: AIDS is not a genetic trait or condition you inherit. It is an infectious disease that a mother can pass to her baby during or after pregnancy. With proper prenatal care, doctors can limit that possibility to less than 5% transfer, while untreated cases transfer around 30% or more of the time. ...Read more

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Can children take Apixaban?

Can children take Apixaban?

Apixaban: Use of apixaban in pediatric patients has not been approved, it is considered an off-label use. This doesn't mean it won't be approved in the future but indications for anticoagulation in pediatrics patients aren't common so testing for approval may not be done ...Read more

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Can children use Tinidazole?

Can children use Tinidazole?

Yes: According to the product information, tindazole can be prescribed for the treatment of parasitic infection to children 3 years of age and above. ...Read more