Neuroscience Center at MGH

Vivian E. Shih, M.D.
Neuroscience Center at Massachusetts General Hospital
Massachusetts General Hospital – East
Building 149, 13th Street
Charlestown, MA 02129
Telephone: 617-726-3884
E-mail: vshih@partners.org

Biography
Dr. Shih is Professor of Neurology at Harvard Medical School and Pediatrician at Massachusetts General Hospital. She received her MD from National Taiwan University and did her Pediatrics Residency at Philadelphia General Hospital. She received postdoctoral training in Pediatric Neurology at Children's Hospital of Philadelphia and in Biochemical Genetics at Massachusetts General Hospital.

Research Program

INHERITED METABOLIC DISORDERS IN HUMAN CEREBRAL DISEASE

Dr. Shih’s research is centered around inherited metabolic disorders and includes studies of the molecular, biochemical, clinical, and pathological aspects of metabolic disorders of amino acids, organic acids, fatty acids and related compounds. These disorders cause mental retardation and other neurological and metabolic complications, and are often amenable to early treatment.

Fumarase deficiency is a rare metabolic disorder causing severe neurological disease and often death in early childhood. Dr. Shih’s laboratory is characterizing the enzyme abnormalities and performing molecular analysis in a series of patients with different ethnic backgrounds.

Clinical features of homocystinuria due to cystathionine ß-synthase (CBS) deficiency include mental retardation, dislocated optical lenses, vascular occlusions, and stroke. Patients with clinically silent homocystinuria can initially present with premature stroke. Dr. Shih’s laboratory is involved in studies of clinical manifestations, effects of betaine treatment, and molecular analysis.

Dr. Shih’s laboratory has also performed metabolic, therapeutic, and mutation studies in a hypohomocysteinemic syndrome due to isolated sulfite oxidase deficiency, a disorder with early onset of severe neurological defects.

Another project is examining the relationship of fetal fatty acid oxidation defects (FAOD) with respect to the pathophysiology of the maternal liver disease (acute fatty liver of pregnancy and HELLP syndrome) in an attempt to characterize these disease states for improved future maternal-fetal outcomes.
Studies of the long-term effects of prospective treatments for patients with inborn errors detected by routine newborn screening are ongoing.

Publications
Click here to access a full PubMed search on Dr. Shih

Kelly PJ, Kistler JP, Shih VE et al. Inflammation, homocysteine, and vitamin B6 status after ischemic stroke. Stroke. 2004 Jan;35(1):12-5. Epub 2003 Dec 04.
Kelly PJ, Furie KL, Kistler JP, Barron M, Picard EH, Mandell R, Shih VE. Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency. Neurology 2003;60:275-9.
Fearing MK, Levy HL, Wilkins-Haug LE, Larson C, Shih VE. Maternal Liver Diseases in the Pregnancies of Infants with the Spectrum of Fatty Acid Oxidation Defects Compared to Matched Population Controls. American College of Medical Genetics Annual Clinical Genetics Meeting. Kissimmee, Florida. 2004.
Waisbren SE, Albers S, Amato S, Ampola M, Brewster TG, Demmer L, Eaton RB, Greenstein R, Korson M, Larson C, Marsden D, Msall M, Naylor EW, Pueschel S, Seashore M, Shih VE, Levy HL. Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress. Obstet Gynecol Surv. 2004 Jun;59(6):415-417.
Huang TS, Yang W, Pereira AC, Craigen WJ, Shih VE. Cloning and characterization of Putative Human D-2-Hydroxyacid Dehydrogenase in Chromosome 9q. Biochem and Biophys Res Commun, 2000; 268:298-301.
Zytkovicz TH, Fitzgerald EF, Marsden D, Larson CA, Shih VE, Johnson DM, Strauss AW, Comeau AM, Eaton RB, Grady GF. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. Clin Chem. 2001;47:1945-55.
Coughlin EM, Christensen E, Kunz PL, Krishnamoorthy KS, Walker V, Dennis NR, Chalmers RA, Elpeleg ON, Whelan D, Pollitt RJ, Ramesh V, Mandell R, Shih VE. Molecular analysis and prenatal diagnosis of human fumarase deficiency. Molecular Genetics and Metabolism, 1998;63:254-262.