Overview
Homocystinuria is a rare inherited metabolic disorder causing accumulation of homocysteine in the blood and urine, leading to vision, skeletal, cardiovascular, and developmental problems.
Symptoms
Dislocated lens or vision problems Long limbs, tall stature, and scoliosis Developmental delay or learning difficulties Blood clots and cardiovascular complications
Causes
Genetic mutations affecting enzymes that metabolize homocysteine Inherited in an autosomal recessive pattern
Diagnosis
Newborn screening and blood tests for homocysteine levels Urine tests for homocystine Genetic testing to confirm mutations
Treatment
Vitamin B6, B12, folic acid supplementation Low-methionine diet to reduce homocysteine Regular monitoring of cardiovascular and eye health
Complications
Blood clots leading to stroke or heart attack Vision problems and lens dislocation Skeletal abnormalities
Prevention
Genetic counseling for at-risk families Early diagnosis and treatment to prevent complications