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