Margretta Seashore
Section of Genetics
Department of Pediatrics
margretta.seashore@yale.edu

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Research
Betaine therapy in Cblc: Two patients with the Cblc form of methylmalonic aciduria have been treated with betaine to reduce the degree of homocystinemia with the hope of decreasing the risk of vascular thrombosis. There is some evidence that development has improved since treatment started and no vascular complications have yet occurred. The second patient responded biochemically but continued to lag behind developmentally. He also developed hydrocephalus which was treated but died of ventricular obstruction. Another patient who was offered the opportunity to participate refused and has died of pulmonary vascular complications.

These cases are being reported. One patient with cystathionine synthases deficiency is also being treated with betaine on this protocol (in collaboration with Dr. Joyce Fox, Long Island Jewish Hospital) along with dietary management. He is continuing to develop normally. One patient at Riley Children's Hospital, Indianapolis is being recruited for the study in collaboration with Dr. Rebecca Wappner.