What is Homocystinuria?
Homocystinuria is a rare inherited metabolic disorder that affects how the body processes certain amino acids, particularly methionine. The condition results in elevated levels of homocysteine in the blood and urine.
Causes
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Genetic Inheritance: Inherited in an autosomal recessive pattern
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Enzyme Deficiency: Most commonly caused by lack of cystathionine beta-synthase (CBS)
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Metabolic Disruption: Inability to properly process methionine and homocysteine
Common Symptoms
Physical Characteristics
- Tall, slender build
- Long limbs
- High-arched palate
- Chest deformities
Vision Problems
- Lens dislocation (ectopia lentis)
- Severe nearsightedness
- Glaucoma
Cardiovascular Issues
- Blood clotting problems
- Early atherosclerosis
- Risk of stroke and heart attacks
Skeletal Problems
- Osteoporosis
- Scoliosis
- Long, spider-like fingers
Diagnosis
- Newborn screening
- Blood tests for homocysteine levels
- Genetic testing
- Urine tests
Treatment Options
Dietary Management
- Low-methionine diet
- Protein restrictions
- Vitamin B6, B12, and folate supplements
Medical Monitoring
- Regular blood tests
- Eye examinations
- Cardiovascular assessments
- Bone density scans
Living with Homocystinuria
Lifestyle Considerations
- Regular exercise within safe limits
- Avoiding blood clot risks
- Proper dental care
Support Resources
- Genetic counseling
- Nutritionist consultation
- Support groups
Prevention of Complications
- Early diagnosis and treatment
- Medication compliance
- Regular medical check-ups
- Dietary adherence