What is Homocystinuria

Homocystinuria, also known as Cystathionine beta synthase deficiency, is an inherited disorder of the metabolism of the amino acid methionine. It is an inherited autosomal recessiv...

Join Now

Free, anonymous support from people just like you.

We're on Facebook!
Check out our page!
DS Store is Open
DS t-shirts and more
Advertisement
Topics Replies Last Post
Doctors? 
2 By lovinglifeas...
09/03/08
Low Protein foods 
3 By crazygirl1
09/24/07

Homocystinuria Information

Homocystinuria, also known as Cystathionine beta synthase deficiency, is an inherited disorder of the metabolism of the amino acid methionine. It is an inherited autosomal recessive trait, which means the child is to inherit the defective gene from both parents. This defect leads to a multisystemic disorder of the connective tissue, muscles, CNS, and cardiovascular system. Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. Infants appear to be normal and early symptoms, if any are present, are vague.

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.

Advertisement

This support group doesn't have any member created groups yet.
Be the first to create one!


Advertisement
Content on DailyStrength.org is for informational purposes only. We do not provide any medical advice, diagnosis or treatment. More info
Portions of support group and treatment information provided by Wikipedia under the GNU FDL license
Copyright 2006-2009, DailyStrength, Inc. All rights reserved.
Terms of Service | Privacy Policy | Report Abuse | HSW International | HSW China | HSW Brazil