Homocystinuria

Question: 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.

Answer: 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...

Question: what are signs and symptoms of homocystinuria (10 points)? also, who does it effect (age wise - do people get when born?)

Answer: * 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

Question: What are some interesting facts about homocystinuria? (10 points)? please reply asap Yes, a homework assignment over homocystinuria

Answer: a homework question?

Question: 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!

Answer: 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

Question: 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 simrandk@msn.com or khetpal_pinky@ongc.co.in. Thank you very much, Mrs. Pinky D. Khetpal, Chembur, Mumbai.

Answer: 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.