Question 1

what is homocystinuria?

Accepted Answer

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/.

Question 2

what are the tests for homocystinuria?

Accepted Answer

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.

Question 3

what are the symptoms of homocystinuria?

Accepted Answer

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/.

Question 4

what are some interesting info about homocystinuria?

Accepted Answer

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.

Question 5

what is the definition or description of: homocystinuria?

Accepted Answer

Homocystinuria: Homocystinuria = cystathionine beta synthase deficiency . An  inherited disorder in which an enzyme required for metabolism of food is deficient, leading to a buildup of homocysteine in blood.

Question 6

what are signs and symptoms of homocystinuria?

Accepted Answer

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.

Question 7

any doctors out there with experience homocystinuria?

Accepted Answer

Yes: Many rheumatologists, nephrologists, as well as cardiologists and internal medicine doctors are aware of this condition, which may be a manifestation of other diseases rather than a specific "disease" in itself. Knowledgeable health care providers can help you determine the significance of this finding.

Question 8

is homocystinuria a gene disorder?

Accepted Answer

Yes: Homocystinuria is an inherited genetic disorder that impairs the metabolism of the Amino Acid methionine.  It is a recessive disorder, which means that you have to have two faulty copies of the gene (inherited singularly from each parent)  to be cinically affected.

Question 9

is homocystinuria a genetic or chromosomal disorder?

Accepted Answer

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.

Question 10

is homocystinuria a gene problem or chromosomal disorder?

Accepted Answer

Both: The genome is made out of chromossomes which carry dna from both parents.
This has similarities to Marfan syndrome and it is of dominant inheritance so 50% chance of passing it to the next generation.

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Homocystinuria in children

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What is homocystinuria?

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What are the tests for homocystinuria?

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What are the symptoms of homocystinuria?

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What are some interesting info about homocystinuria?

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What is the definition or description of: homocystinuria?

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What are signs and symptoms of homocystinuria?

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Any doctors out there with experience homocystinuria?

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Is homocystinuria a gene disorder?

A member asked:

Is homocystinuria a genetic or chromosomal disorder?

A member asked:

Is homocystinuria a gene problem or chromosomal disorder?

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