What is homocystinuria?

Inherited disorder. Homocystinuria is an inherited disorder of metabolism that results in elevated levels of homocysteine which gets excreted in the urine. Here is a good link that gives more info than my 400 words allow. http://www.ncbi.nlm.nih.gov/pubmedhealth/pmh0002179/.

Related Questions

What are the tests for homocystinuria?

Homocystinuria. You check Amino Acid screen of blood and urine. You can do genetic testing because its usually an autosomal recessive disease (both parents have the gene). Sometimes a liver biopsy with enzyme assay can show the disorder. Read more...

What are the symptoms of homocystinuria?

Inherited disorder. Homocystinuria is an inherited disorder of metabolism that results in elevated levels of homocysteine which gets excreted in the urine. Here is a good link that gives more info than my 400 words allow. http://www.ncbi.nlm.nih.gov/pubmedhealth/pmh0002179/. Read more...

What is the treatment for homocystinuria?

Homocystinuria. Often people will respond to hight doses of vitamin b6 (pyridoxine). Also a low methionine diet is necessary. Trimethyglycine (betaine) is also taken. Read more...