Homocystinuria

Homocystinuria is an autosomal recessive metabolic disorder which results in the accumulation of homocysteine due to decreased activity of cystathionine beta-synthase

Features of homocystinuria include: 
  • Myopia Ectopia lentis (=lens dislocation) 
  • Low IQ 
  • Marfanoid body habitus 
  • Thromboembotic events 
  • Osteoporosis 

Homocystinuria is also associated with malar flush and livedo reticularis. 

Diagnosis: 
  • Elevated plasma homocystine and methionine 
  • Elevated urinary homocystine 

Treatment: 
  • Methionine/protein-restricted diet 
  • Pyridoxine (vitamin B6; a cofactor for cystathionine beta-synthase ) 
    • Two types of homocystinuria exist – one responds well to pyridoxine, the other doesn’t 
  • Possibly B12/folate supplements – these encourage conversion of homocystine back to methionine. 

References:

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