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 ==Cystathionine Beta-Synthase Deficiency== 
 Connection with dementia and other neurodegenerative diseases? 

  ""Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency"" by Jonathan D Picker, MBChB, PhD; Harvey L Levy, MD  

 *Characteristics: 
 **developmental delay/mental retardation 
 **ectopia lentis and/or severe myopia by age 8 
 **skeletal abnormalities (excessive height and length of the limbs) [i.e., may look like Marfan's syndrome], prone to osteoporosis 
 **thromboembolism (major cause of early death and morbidity) 
 *Other features that may occur: 
 **seizures 
 **psychiatric problems 
 **extrapyramidal signs such as dystonia 
 **hypopigmentation 
 **pancreatitis 
 **malar flush 
 **livedo reticularis 
 *Two phenotypic variants recognized: 
 #B6-non-responsive homocystinuria 
 #B6-responsive homocystinuria (typically milder expression) 

 [just holding this here until someone can incorporate relevant bits] 
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