Hey can anyone tell me about homocystineuria?

Question

I've to get tis question answered to my proffesor within nxt 24 hours...plz friends, answer quickly, plz, its a question of pride for me... otherwise tis prof. gonna giv me a zero..

Answer 1

okay, I got this from wikipedia and hre are some of the explanation and definition:

Homocystinuria, also known as Cystathionine beta synthase deficiency, is an inherited disorder of the metabolism of the amino acid methionine, often involving cystathionine beta synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit the defective gene from both parents to be affected.

SYMPTOMS

- A family history of homocystinuria  

- Long limbs

- Mental retardation

- Psychiatric disease

- Eye anomalies:

- ectopia lentis

- Myopia

- Optic atrophy

- Seizure

- extensive atheroma formation at young age which affects many arteries but not the coronary arteries

TREATMENT

No specific cure has been discovered for homocystinuria; however, many people are treated using high doses of vitamin B6 (also known as pyridoxine). Slightly less than 50% respond to this treatment and need to intake supplemental vitamin B6 for the rest of their lives. Those who do not respond require a low methionine diet, and most will need treatment with trimethylglycine. A normal dose of folic acid supplement and occasionally added cysteine in the diet is helpful.

This should help with everything and hope this explains better to ya professor^_^