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Doctor insights on: Homocystinuria

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Dr. Valentina Medici
38 doctors shared insights

Homocystinuria (Overview)

Cystathionine beta-synthase deficiency, or homocystinuria, is a disease caused by lack of an enzyme necessary for processing certain amino acids in the body.


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What are the tests for homocystinuria?

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

Dr. Valentina Medici
38 doctors shared insights

Homocystinuria (Overview)

Cystathionine beta-synthase deficiency, or homocystinuria, is a disease caused by lack of an enzyme necessary for processing certain amino acids in the body.


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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

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What are signs and symptoms of homocystinuria?

Homocysteinuria: Homocysteinuria is a cystathionine beta synthase deficiency that causes inability to metabolize methionine. Symptoms are often failure to thrive or developmental delay in infants. Visual problems occur. Chest deformity, high foot arches, knock knees, spidery fingers (arachonodactyly), tall, thin build, mental disorders, blood clots and dislocated lenses of the eyes. ...Read more

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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

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Is homocystinuria a genetic or chromosomal disorder?

Is homocystinuria a genetic or chromosomal disorder?

See below: Homocystinuria is a genetic disorder which affects the metabolism of the aminoacid methionine. It is inherited as a autosomal recessive trait trait, ie the child must inherit the non working gene from both the parents to be affected. It presents as failure to thrive, mental retardation, visual problems and bone problems. ...Read more

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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/. ...Read more

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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

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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

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What are some interesting info about homocystinuria?

What are some interesting info about homocystinuria?

Inherited disorder: An abnormality of an enzyme that converts methionine (an amino acid) results in elevated levels of this compound. May be associated with connective tissue disease, heart and brain abnormalities, as well as eye problems and early blood vessel blockage or clotting. There is no known cure, but life expectancy is reduced only if untreated, usually with modified diet, vitamin b6, or frolic acid. ...Read more

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How can a teenager cope with homocystinuria?

How can a teenager cope with homocystinuria?

Vitamin supplement : Homocystinuria is an inherited disorder of the metabolism of the Amino Acid methionine. This defect leads to a multisystemic disorder of the connective tissue, muscles, cns, and cardiovascular system. The life expectancy is reduced only if untreated. Treatment includes high doses of vitamin b6, b12, and folic acid. Some require a low methionine diet and adding cysteine to diet can be helpful. ...Read more