What is Homocystinuria?

Homocystinuria is a rare inherited disorder that affects the metabolism of several amino acids, in particular methionine. This disorder usually results in abnormally high levels of the amino acid homocysteine in the blood. High levels of homocysteine can cause a variety of serious health problems, including mental retardation and heart and eye problems. If left untreated, homocystinuria can cause serious medical complications or death. It is essential to diagnose and begin treatment of this disorder as soon as possible.

Common Symptoms of Homocystinuria

Common signs and symptoms of homocystinuria may include:

  • Mental retardation
  • Developmental delays
  • Curving of the spine (scoliosis)
  • Tall height
  • Thin body
  • Early-onset arthritis or osteoporosis
  • Vision problems, including nearsightedness or astigmatism
  • Heart problems
  • Blood clots

Diagnosis of Homocystinuria

Homocystinuria is usually diagnosed through a combination of methods, including:

  • Blood tests to measure amino acid levels in the blood
  • Urine tests to measure levels of homocysteine and other specific metabolites
  • Genetic testing to confirm the disorder
  • X-rays and other imaging tests to identify skeletal abnormalities

Treatment of Homocystinuria

The primary goal of homocystinuria treatment is to reduce and control the levels of homocysteine in the blood and to prevent medical complications. Treatment may also include:

  • Dietary modifications, including intake of low-methionine foods and supplemental vitamins
  • Medication to reduce the levels of homocysteine in the blood
  • Vitamin B-6 supplements
  • Surgery to correct any skeletal deformities

It is also important to monitor vision and heart health through regular doctor's visits and tests.