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.
2006-12-04 20:59:50 · 2 answers · asked by Simran 1 in Health ➔ Diseases & Conditions ➔ Other - Diseases
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.
2006-12-05 03:34:37 · answer #1 · answered by chanukyagv 3 · 0⤊ 0⤋
Very unfortunate. I think it is HCY and not HCU. I think it is hereditary. Then your or your Husband's family line, should have this problem. Kindly check. This site is quite informative, If you have not gone through it, please do. : http://www.nlm.nih.gov/medlineplus/ency/article/001199.htm
2006-12-05 08:37:32 · answer #2 · answered by Anonymous · 0⤊ 0⤋