DEFINITION
Homocystinuria is a condition caused by a deficiency of
enzymes required for the metabolism of homocysteine.
CAUSE
Children with homocystinuria are able to metabolize the
amino acid homocysteine. As a result of this amino acid and its by-products
accumulate and cause a variety of symptoms. The symptoms that arise can be mild
or severe, depending on the enzyme that is experiencing interference.
SYMPTOMS
Babies who have this disorder appear normal at birth. But
then could find any dislocation of the eye lens, which causes severe loss of
vision, usually begins after the age of 3 years. The child has nearsightedness.
Most children have abnormalities in bone, such as
osteoporosis. Children with homocystinuria are usually tall and thin, has a
curved spine, scoliosis, deformity of the chest, legs and fingers are long,
like a spider.
Common mental disorders, behavioral, and intellectual if the
disease is not diagnosed and get treatment early. Homocystinuria makes the
blood less likely to clot, so it could be a stroke, high blood pressure, and
other serious disorders.
DIAGNOSIS
Since 2008, almost all the states in America do blood tests
at every newborn for the detection of homocystinuria. This examination measures
the function of the enzyme in the liver cells or skin to confirm the diagnosis.
TREATMENT
Most children with homocystinuria improved by administering
vitamin B6 or vitamin B12. In addition, treatment is done to deal with the
symptoms or complications exist.
REFERENCE
- S, Lee M. Disorders of Amino Acid Metabolism. Merck Manual
Handbook. 2009.
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