Cystathionine Beta Synthase Deficiency

Below you will find more information about Cystathionine Beta Synthase Deficiency from Medigest. If you believe that you are suffering from any of the symptoms of Cystathionine Beta Synthase Deficiency it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Cystathionine Beta Synthase Deficiency and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Cystathionine Beta Synthase Deficiency comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


Cystathionine beta-synthase deficiency disease is a genetic metabolic disorder that involves the amino acid methionine.


The disease can be diagnosed by skeletal X-ray findings, amino acid screening of the blood serum, skin biopsy and ophthalmic examinations.


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.


Cystathionine beta-synthase deficiency disease is an autosomal recessive disorder.

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