Some degree of mental retardation is usually seen, but some affected people have normal IQs. When mental retardation is present, it is generally progressive if left untreated. The condition can also increase the risk for psychiatric disorders.
Homocystinuria has several features in common with Marfan Syndrome, including dislocation of the lens; a tall, thin build with long limbs; spidery fingers, and a pectus deformity of the chest. In addition, affected people may have high arches of the feet, knock-knees, and a curved spine, or, scoliosis.
Affected people commonly develop blood clots. These clots can dislodge and travel and damage any tissue in which the clot lodges. Clots that travel to the brain can cause stroke, for example.
Some symptoms include: nearsightedness, flush across the cheeks, being very thin, long limbs, high-arched feet, knock-knees, mental retardation, and psychiatric disease.
Treatment.
There is no specific cure for homocystinuria. However, many people respond to high doses of vitamin B6 (also known as pyridoxine). Slightly less than 50% respond to this treatment; those that do respond need supplemental vitamin B6 for the rest of their lives. Those that do not respond require a low methionine diet, and most will need treatment with trimethylglycine (a medication). A normal dose folic acid supplement and occasionally added cysteine (an amino acid) in the diet is helpful.
Prognosis.
Although no specific cure exists for homocystinuria, approximately half of the affected people can be helped by vitamin B6 therapy.
If the diagnosis is made while a patient is young, a low methionine diet started promptly and strictly adhered to can spare some mental retardation and other complications of the disease. For this reason, some states screen for homocystinuria in all newborns.
Unfortunately, patients with persistent increases in blood homocysteine levels are at increased risk for blood clots, which can cause significant medical problems and shorten life span.
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