FAQ - Homocystinuria
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Any teenagers out there with Homocystinuria?


I have this disorder and was lookin to meet somepeople with my same medical problem. Leave me a message or email me.
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You might want to take a look here:
http://www.necpad.org/home.htm

It's the New England Connection for PKU and Allied Disorders (those treated in a similar way, through diet & medical food.)

They have a pretty good group for it. I don't have HCU, nor am I a teenager (24 actually) but I'm familiar with it and low-pro foods. A store where I used to pick up lunch before going to one of the radio stations where I worked (it was close, so I went there) had lots of specialized foods for metabolic disorders. I tried a few, some are really good! I became interested in the different metabolic disorders after that, and I like to learn about them.

That's the thing about HCU, it isn't nearly common enough to warrant good size groups. I hope that link helped though...  (+ info)

Is homocystinuria a gene or chromosomal disorder?


It's a genetic disorder. Mutations in the CBS, MTHFR, MTR, and MTRR genes cause homocystinuria. A chromosome is a single piece of DNA and contains, among other things, many genes.  (+ info)

what are signs and symptoms of homocystinuria (10 points)?


also, who does it effect (age wise - do people get when born?)
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* A family history of homocystinuria
* Flush across the cheeks
* Tall, thin build
* Long limbs
* High-arched feet (pes cavus)
* Knock-knees (genu valgum)
* Pectus excavatum
* Pectus carinatum
* Mental retardation
* Psychiatric disease
* Eye anomalies:
* 90% have ectopia lentis
* Myopia (Nearsightedness)
* Glaucoma
* Optic atrophy
* Seizure
* extensive atheroma formation at young age which affects many arteries but not the coronary arteries

Symptoms associated with Homocystinuria may include mental retardation, seizures, psychiatric disturbances, delays in reaching developmental milestones (e.g., crawling, walking, sitting), displacement of the lens of the eye (ectopia lentis), abnormal thinning and weakness of the bones (osteoporosis and scoliosis ), and/or the formation of blood clots (thrombi) in various veins and arteries that may lead to life-threatening complications.

Newborn infants appear healthy. Early symptoms, if present at all, are not obvious.

Symptoms may occur as mildly delayed development or failure to thrive. Increasing visual problems may lead to diagnosis of this condition.

Other symptoms include:

* Chest deformities (pectus carinatum,pectus excavatum)
* Flush across the cheeks
* High arches of the feet
* Knock-knees
* Long limbs
* Mental retardation
* Nearsightedness
* Psychiatric disorders
* Spidery fingers (arachnodactyly)
* Tall, thin build

* A family history of homocystinuria
* Nearsightedness
* Flush across the cheeks
* Tall, thin build
* Long limbs
* High-arched feet (pes cavus)
* Knock-knees (genu valgum)
* Pectus excavatum
* Pectus carinatum
* Mental retardation
* Psychiatric disease
You can also look it up on google for a wider range of information  (+ info)

What are some interesting facts about homocystinuria? (10 points)?


please reply asap
Yes, a homework assignment over homocystinuria
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a homework question?  (+ info)

Homocystinuria (HCU)?


Hi, I am mother to a gorgeous baby boy with a condition called Homocystinuria. Im looking for contact with individuals with this metabolic disorder. Not a lot of people seem to realise how easily this can be managed, and the internet is full of gloomy articles that are just not true. My Bub is the only baby in Australia with this condition, so joinning a support group isnt an option!
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http://www5.doh.wa.gov/EHSPHL
/PHL/Newborn/links.htm


http://www.agsa-geneticsupport.org.au
/support?PHPSESSID=2215dced37ae6ea0...



http://www.hcusupport.com/


http://www.dailystrength.org/support
/Genetic_Metabolic/Homocystinuria/


http://www.orpha.net/consor/cgi-bin
/OC_Exp.php?Lng=GB&Expert=395



The top link, I believe, is a group in Australia. The second, gives you addresses of many support groups for different rare genetic diseases.
Hope this helps
Matador 89  (+ info)

Do I have Marfan Syndrome?


Well I recently discovered marfan syndrome online when I was looking up a problem I have. When I was 16 years old I got these really bad stretch marks up my back and I was also diagnosed with some kind of arthritis in my lower back.

I'm now 19 years old and I think that I have a few of the symptoms of the disease.

- I'm extremely thin at 5'8" 120lbs and I am male.
- My chest sinks in a bit and I think it's a mild case of pectus excavatum.
- I have crooked, crowded teeth with a overbite.
- I have a speech problem: A lisp. (I think this may be caused by my overbite and/or crowded/crooked teeth though)
- I have been very thin my entire life.
- The stretch marks on my back.
- I was born with a heart murmur.


After discovering this disease I became worried because I think I might have it or one of the similar diseases such as Loeys-Dietz syndrome, Congenital Contractural Arachnodactyly (CCA) or Beals Syndrome, Ehlers-Danlos syndrome, Homocystinuria, MASS phenotype, Shprintzen-Goldberg syndrome, Stickler syndrome, or Multiple endocrine neoplasia, type 2B.

I also have other problems that may or may not be related. On very rare occasions my knee locks. This happens once every few months or maybe even once a year and it usually happens when I am sitting around or laying in a weird position.

My bones ALL crack. Knuckles, fingers, toes, chest, back, knees, neck, and sometimes even my wrists.

Last month I had some pretty bad chest pain so I went to the walk in clinic down the street from my house. The doctor there sent me for a EKG or ECG I don't remember the name but it was a heart test and some blood work. She said she was sending me for a EKG for a irregular heartbeat, I figured it was just my murmur though. The next day I went for my blood work, but later that day my chest pain got so severe that I went to the emergency room at the hospital. They did a EKG or ECG and said that my heart sounded 100% fine. The emergency doctor also said that the only reason I was getting this chest pain was because I was developing an infection or it was just muscle pain and I could only wait it out. She also said that I didn't appear to have a heart murmur anymore. So I waited it out and just as she said my pain went away 2 days later, so I guess she was right and the doctor at the clinic was wrong.


I have also been trying to gain weight because I'm such a small guy and it seems that every doctor I tell just laughs. They say I am small like this because my father wore a size 28/32 jeans his entire life (he was very thin) but when he reached 40 he started to get fat and now wears a 36/32, I wear 30/32. They say it will hit me when I'm older and I will gain but I don't know...

They also do not think I suffer from marfan syndrome or anything similar. They say I am just a small guy and the bad back is from genetics. They blame the stretch marks on a height growth spurt. The lisp is blamed on my teeth, which I think it is from too but hey better safe than sorry right? They also say that my chest will fill out when I'm older but shouldn't that have already happened? I mean I'm 19 and I am pretty sure that I am done with puberty. The only thing I can see happening to me at this point is more chest hair growing in.

I'm sorry this was so long but basically the doctors all say "calm down you don't have marfan syndrome it's VERY rare." I am genuinely worried though and I want to find out if I have this disease because I would rather not die at a young age, I want a family and all that good stuff.

So either the medical care where I live is just bad (Canada). Or I am worrying to much for nothing. What do you guys think?
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Ok, let's address this step by step. You do have some symptoms of Marfan syndrome or some related disorders, but you're a little hasty going off on that whole long list. Some of those disorders cancel each other out. For instance, people with Marfan, LDS, and EDS are very, very flexible. People with Beals syndrome are not. Shprintzen-Goldberg syndrome usually carries with it mental retardation. LDS has some very distinct physical features that are different from Marfan, like wide-spaced eyes, club feet, and a split uvula. It's dramatic to list all of those and if you do to a doctor, they're not going to take you seriously.

The problem is that those symptoms you've listed all also appear in the general population (and speech problems and cracking bones are not diagnostic symptoms of Marfan). There is a series of criteria that you need to meet in order to be diagnosed with Marfan or a related disorder, and that's much more extensive than what you've listed. The only way to rule out Marfan is to have one of the following tests done to check your entire aorta: echocardiogram, MRI, CT, or TEE. You also need a complete eye exam, including a slit lamp test, and certain skeletal measurements taken. Being tall and thin isn't enough: there are certain ratios we look for when diagnosing Marfan. I am NOT NOT NOT saying you don't have Marfan. I am saying you need further evaluation.

Now, some of the things your doctors told you are wrong. For example, pectus excavatum doesn't "fill out" with age. It's a permanent change. Also, Marfan is NOT that rare. It's estimated that 1 in every 5,000 - 7,000 people has it. And, only about half of those people are aware that they have the diagnosis. That's much more common than say, cystic fibrosis.

When you have chest pain, an EKG will rule out a heart attack, but it would not rule out an aortic dissection, which is the big risk with Marfan. To rule out an aortic dissection, you would need one of the tests I mentioned above.

Bottom line: If you're concerned about Marfan or a related disorder, keep pushing for follow-up. Don't freak yourself out too much in the meanwhile because the few symptoms you've listed could very well turn out to be nothing. There are lots of Marfan-knowledgeable doctors in Canada. There is even a Canadian Marfan foundation. My suggestion is to look them up online and contact them for doctor recommendations.

Also, what the nurse above wrote is wrong. You do NOT have to be tall to have Marfan!!! And, you can't expect that your doctor would have caught it early. Lots of people I know were diagnosed as adults, and not everyone can do that thumb sign. Marfan is a syndrome, NOT a disease, so that means not everyone shows the same symptoms.

Good luck!  (+ info)

benign ligamentous laxity?


my 14 year old when he was younger we were told he had hyper joint mobility, but since then due to other reasons we had him checked for Marfans Syndrome that was negative, so was Homocystinuria as causes due to his orthopedic changes, (has a sunken chest and kypho scoliosis as well, we are now being told he has benign ligamentous laxity which he is starting to find painful in ankles, knees, elbows and wrists, they are also waiting to assess him for Schuermanns Disease in his spine (mild form), he is finding it hard to find what sort of sports he can do as he is very limited apparently, cant even go on the trampoline (last time he did that just broke toe while jumping), his allowed to walk, swim and poss bike riding, he just makes tennis - on certain surfaces.

Could someone please give me and him an idea on to what other sorts of sports/activities he can do please.

thanks
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Then reason for the various tests is to differentiate benign joint hypermobility from serious connective tissue disorders. In Marfan Syndrome and Ehlers-Danlos syndrome, the joint laxity is often apparent before adulthood. But the age of onset and the extent of the joint laxity are variable in Marfan, and may be confined to the hands alone, as presented in the type IV Ehlers-Danlos syndrome. An estimated 5% to 12% of the adult population has some degree of generalized joint hypermobility associated with ligamentous laxity, but not with features of Marfan or Ehlers-Danlos syndromes. Such individuals are blessed with a potentially heightened aptitude for activities such as gymnastics, dancing, and playing musical instruments, but may have an increased susceptibility to dislocations, traumatic joint pain, tendinitis, and overuse injuries. This problem may present as a fibromyalgia-like syndrome triggered by exercise. Some subjects with benign hypermobile joints may benefit from prophylactic splinting or taping of affected joints before injury-provoking physical activities. Because of the susceptibility to injury, it may be that physical sports might have to be ruled out of future activities. When you receive the final details of all the tests, you would be advised to take up this question with the specialist.
Hope this helps
Matador 89  (+ info)

Homocystinuria - HCU?


I have 6 yrs. old son who is suffering from Homocystinuria, HCU. he is taking Treatment under Dr. Anil Jalan, Mumbai. This disease is very rare and treatment is life long. Due to this Genetic Disorder he has dislocation of lens and we have to remove his natural lens by surgery. Is there any patient related to this disease? My son's HCU level is not so high due to that He is depend on B6 and B12 Vitamin tablets. Otherwise this treatment is also include Low protien Diet and Homonex-II powder which available only in U.S. The treatment is very costly. I want to speread the information on this diseases as well as want to know if any patient is in Mumbai. This diseases in among one out of 2,50,000 children. ok if you want more information on this please mail me on [email protected] or [email protected] Thank you very much, Mrs. Pinky D. Khetpal, Chembur, Mumbai.
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Homocystinuaria is a rare congenital autosomal recessive disorder,which can arise de-novo also.The person will become lanky with visual disturbances like lens subluxation and risk of arterial thrombosis.Protein(methionine) restriction with cystine supplementation along high dose pyridoxine mitigates some risk.Few are mentally retarded which is not reversible.The current treatment has to be life long.Defects in few enzymes which are involved in homocysteine metabolism lead to this condition and only distant hope is gene therapy,which at present is not available even in developed countries.  (+ info)


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