To find out if you have a rare inborn error of metabolism (homcystinuria); also used to determine if you are folate-deficient or vitamin B12-deficient as blood homocysteine concentration can be raised in both conditions.
Homocysteine
If you have symptoms consistent with homocystinuria, for example dislocation of the lens of the eye or some blood clots, and all newborn babies are tested via heel prick in the newborn screening program. Rarely when vitamin B12 concentrations are borderline and suspicion is high that B12 deficiency is present homocysteine (or methylmalonic acid) can help prove tissue deficiency in the face of a normal blood concentration.
A blood sample taken by needle from a vein in the arm
You may be instructed to fast for 10 to 12 hours prior to this test
-
How is it used?
Homocysteine can be used to detect homocystinuria. The amino acid concentrations of methionine and homocysteine are measured in the blood, and sometimes urine, including in the blood spot from a newborn baby’s heel to detect and screen for this condition.
Occasionally, a doctor may also request a homocysteine test in the investigation of suspected vitamin B12 or folate deficiency.
-
When is it requested?
Homocysteine is measured in all newborns in the UK who are tested as part of the newborn screening program. People affected with suspected homocystinuria and relatives may also be tested.
-
What does the test result mean?
-
Is there anything else I should know?
There is evidence of an association between homocysteine levels and cardiovascular disease e.g. heart attack/stroke. However reduction of homocysteine levels with B vitamins does not reduce the risk therefore there is no evidence that the homocysteine is causing the problem. Therefore measurement of homocysteine to asses cardiovascular risk, and treatment with folic acid for example, is not standard recommended care.
Homocysteine levels can increase with age, when a patient smokes, and with the use of drugs such as carbamazepine, methotrexate, and phenytoin. Homocysteine levels are lower in women than in men. Women’s concentrations increase after menopause, possibly due to decreased oestrogen production.
Homocystinuria is a rare inherited metabolic disorder characterised by an increased blood and urine concentration of homocysteine. Classical homocystinuria is due to a deficiency in cystathionine beta synthase (CBS). Affected individuals appear normal at birth but develop serious complications in childhood. Diagnosis and treatment started sufficiently early in life can effectively prevent or reduce the severity of these complications.
-
What are some good sources of folic acid and vitamins B6 and B12?
-
Could any drugs I may be taking have an effect on my homocysteine level?
-
Could any drugs I may be taking have an effect on my homocysteine level?