Definition:
Cystathionine beta-synthase deficiency disease is a genetic metabolic disorder that involves the amino acid methionine.
Diagnosis:
The disease can be diagnosed by skeletal X-ray findings, amino acid screening of the blood serum, skin biopsy and ophthalmic examinations.
Treatment:
Folic acid and vitamin B-6 supplements can help improve the condition of the patients affected by the disease. However, there is still no specific cure to the disease, especially with mental retardation.
Symptoms and Signs:
The common symptoms of the genetic defect include delayed development, failure to thrive, nearsightedness, frequent blood clots, spidery fingers, scoliosis, knock-knees, and eventual mental retardation. These symptoms are usually not detected until they have progressed to advanced stages.
Causes:
Cystathionine beta-synthase deficiency disease is an autosomal recessive disorder.
