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What are signs and symptoms of homocystinuria?
3 doctors weighed in

Dr. Jared Fialkow
Internal Medicine - Nephrology & Dialysis
2 doctors agree
In brief: Homocysteinuria
Homocysteinuria is a cystathionine beta synthase deficiency that causes inability to metabolize methionine.
Symptoms are often failure to thrive or developmental delay in infants. Visual problems occur. Chest deformity, high foot arches, knock knees, spidery fingers (arachonodactyly), tall, thin build, mental disorders, blood clots and dislocated lenses of the eyes.

In brief: Homocysteinuria
Homocysteinuria is a cystathionine beta synthase deficiency that causes inability to metabolize methionine.
Symptoms are often failure to thrive or developmental delay in infants. Visual problems occur. Chest deformity, high foot arches, knock knees, spidery fingers (arachonodactyly), tall, thin build, mental disorders, blood clots and dislocated lenses of the eyes.
Dr. Jared Fialkow
Dr. Jared Fialkow
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