no
no
no

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:
author profile image
Abdelghafour

Lorem Ipsum is simply dummy text of the printing and typesetting industry. Lorem Ipsum has been the industry's standard dummy text ever since the 1500s, when an unknown printer took a galley of type and scrambled it to make a type specimen book.

no
Secret collector of interesting anonymised ECGs. Fan of the Bath Photomarathon. Lover of cream teas. [Sarah Hudson] (Your Picture)