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Homocystinuria Causes

Mutations in the CBS, MTHFR, MTR, and MTRR genes result to homocystinuria.

Homocystinuria Definition

Homocystinuria is an inherited disorder in which the body cannot process certain building blocks of proteins (amino acids) properly.

Homocystinuria Diagnosis

During a physical examination of the child, the health care provider may take notice a tall, thin (Marfanoid) stature with deformity of the chest or scoliosis. If there is poor or double vision, an ophthalmologist should perform a dilated eye exam where dislocation of the lens of the eye or nearsightedness may be apparent.

Homocystinuria Symptoms and Signs

Some symptoms of homocystinuria include: nearsightedness, flush across the cheeks, tall and thin build, long limbs, high arched feet, knock-knees, pectus excavatum, pectus carinatum, mental retradation, psychiatric disease, eye anomalies, ectopia lentis, myopia, glaucoma, optic atrophy, seizure, and extensive atheroma formation at a young age.

Homocystinuria Treatment

No particular cure has been discovered for homocystinuria; however, many people are treated using high doses of vitamin B6 (also known as pyridoxine). Slightly less than 50% respond to this treatment and are required to take supplemental vitamin B6 for the rest of their lives. Those who do not respond need a low methionine diet, and most will need treatment with trimethylglycine. A normal dose of folic acid supplement and sometimes added cysteine in the diet is helpful.

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