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Dr. Diana, both a doctor (therapeutic optometrist), and a recovered POTS and ME/CFS patient, offers help and hope for POTS, Dysautonomia, Ehlers-Danlos syndrome, Chronic Fatigue, Chronic Lyme, vascular abnormalities, Fibromyalgia, and Multiple Sclerosis. Dr. Diana is now working full time at POTS Care.

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Reply To: CBS gene mutations being investigated in Ehlers-Danlos.

NEW STUDY! Parasym Plus™ for Multiple Sclerosis › Forums › PrettyIll.com Discussion › EDS/MS/Chiari › CBS gene mutations being investigated in Ehlers-Danlos. › Reply To: CBS gene mutations being investigated in Ehlers-Danlos.

December 14, 2012 at 3:31 am #3212
SweetFeather
Participant

http://www.genecards.org/cgi-bin/carddisp.pl?gene=CBS

“OMIM gene information: 613381 OMIM disorders: 236200
UniProtKB/Swiss-Prot: CBS_HUMAN, P35520
Defects in CBS are the cause of cystathionine beta-synthase deficiency (CBSD) [MIM:236200]. CBSD is an
enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated
homocystinuria due to CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling
Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include
increased urinary homocystine and methionine.”

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