Cystathionine Beta Synthase Deficiency
Cystathionine Beta Synthase Deficiency Causes
Cystathionine beta-synthase deficiency disease is an autosomal recessive disorder.
Cystathionine Beta Synthase Deficiency Definition
Cystathionine beta-synthase deficiency disease is a genetic metabolic disorder that involves the amino acid methionine.
Cystathionine Beta Synthase Deficiency Diagnosis
The disease can be diagnosed by skeletal X-ray findings, amino acid screening of the blood serum, skin biopsy and ophthalmic examinations.
Cystathionine Beta Synthase Deficiency 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.
Cystathionine Beta Synthase Deficiency 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.