Symptoms of the most severe form of homocystinuria will start in infancy or early childhood. he first of these symptoms may be poor growth and failure to gain weight.[1][2][3] Other people with homocystinuria may not have any symptoms until adulthood. The most common symptom seen in adults with homocystinuria is an abnormal blood clot.[3]
Other symptoms of untreated homocystinuria can include:
Eye:
• Dislocation of the lens of the eye
• Nearsightedness
Skeletal:
• Caved-in chest (pectus excavatum)
• Curvature of the spine (
• Long, thin bones
•
• Learning and
• Psychiatric problems
Blood and heart:
• Cardiovascular disease
• Abnormal blood clots
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My daughter has homocystinuria and wants to get pregnant. Is there any information about homocystinuria and pregnancy? See answer