II. Pathophysiology
- Inherited enzyme deficiency
- Effects
- Intimal fibrosis and Fiber destruction
- Destroys arterial elastic fibers
- Destroys Zonular fibers of the lens
- Fatty Liver infiltration
- Gliosis and focal necrosis of the Midbrain
- Intimal fibrosis and Fiber destruction
III. Etiology
- Cystathionine B-synthase deficiency
- Methylene Tetrahydrofolate reductase deficiency
- Methionine synthase defect
- Vitamin B12 transport or coenzyme defect
IV. Signs
- Mental Retardation
- Seizures
- Cataracts
- Lenticular subluxation
- Sparse hair
- Arachnodactyly
- Pectus Excavatum
- Long and thin trunk, arms and legs
- Thromboembolic phenomenon
V. Labs
- Increased levels Homocysteine and Methionine
- Present in CSF, Plasma and Urine