Asilomar Conference Center
800 Asilomar Blvd.
Pacific Grove, CA 93950

March 3-6, 2002

Scientific and Social Program:

Sunday, March 3
    2:00-6:00 PM Registration – Administration Building  
    3:00-6:00 PM Board of Directors Meeting – Dolphin Room  
    6:00-7:00 PM Dinner – Crocker Dining Hall  
    7:00-10:00 PM Opening Reception- Chapel  
Monday, March 4
    7:30-8:15 AM Breakfast – Crocker Dining Hall  
    8:15 AM-12:30 PM Structural Biology and the Inborn Errors of Metabolism Jerry Vockley, M.D., Ph.D., Chair.
    8:15-9:00 The Three-Dimensional Structure of Mevalonate Kinase: An Evaluation of V377I as the Molecular Basis for HIDS/Periodic Fever Syndrome Jung-Ja Kim, Ph.D., Medical College of Wisconsin
    9:00-9:45 Structural implications of mutations in ornithine transcarbamylase in OTC deficiency Mendel Tuchman, M.D., National Children’s Hospital
    9:45-10:15 Break  
    10:15-11:00 New technologies to study structure/function relationships in the proteomics era DettionofsubsspeintheACDs Jerry Vockley, M.D., Ph.D., Mayo Clinic and Foundation
    11:00-11:45 Three-dimensional structure of mitochondria. Carmen Mannella, Ph.D., Wadsworth Center
    12:00-1:00 PM Lunch – Crocker Dining Hall  
  Slide preview room Dolphin (open during sessions only  
    1:00-5:30 Short Oral Presentations including travel award winners. Bruce Barshop, M.D., Ph.D., Chair.

Musculoskeletal manifestations of Hurler Syndrome: Long-term follow-up after bone marrow transplantation.

Jason S. Weisstein, M.D., MPH, University of California, San Francisco

The molecular basis of type III 3-methylglutaconic aciduria.

Yair Anikster, M.D.  National Institute of Child Health and Human Development, National Institutes of Health

Cloning and expression of the mouse N-acetylglutamate synthase gene.

Ljubica Caldovic, Ph.D.  Children’s National Medical Center

The frequency of short-chain acyl-CoA dehydrogenase (SCAD) gene variants in the general population and correlation with the butyrylcarnitine concentration in newborn blood spots.

Narasimhan Nagan, Ph.D.  Mayo Clinic and Foundation

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.

Ute Spiekerkoetter, M.D.  Vanderbilt University

  Creatine transporter defect: a new disorder with a relatively high incidence?

Gajja Salomons,  Ph.D.  VU University Medical Center, Amsterdam

  Identification of creatine transporter deficiency in a large X-linked mental retardation (XLMR) family.

Tim C. Wood, Ph.D.  Greenwood Genetic Center

 Whole cell [2-14C] pyruvate oxidation as a diagnostic indicator of mitochondrial complex I dysfunction.

Carla D. Cuthbert, Ph.D.  The Hospital for Sick Children
    3:00-3:30 Break  

Screening for purine and pyrimidine disorders by tandem mass spectrometry.

Murray Potter,   University of British Columbia

 Gene Knockout Mouse Model For Carnitine Palmitoyltransferase 1a (Liver) Deficiency.

Lara R. Nyman, M.S.  University of Alabama at Birmingham

Cloning, expression and characterization of human mitochondrial ornithine transporter.

Hiroki Morizono, Ph.D.   Children’s National Medical Center

Rapid screening for mucopolysaccharidoses using tandem mass spectrometry.

David S. Millington,   Duke University Medical Center

P Safety and efficacy of recombinant human acid alpha-glucosidase (RHGAA) in patients with classical infantile Pompe Disease: Preliminary 3 month data from a phase 2 study.

riya Kishnani, M.D.   Duke University Medical Center

Gene knockout mouse model for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Philip Wood, DVM, Ph.D.  University of Alabama at Birmingham

The laboratory diagnosis of mitochondrial disease: a 16-year experience.

Georgirene D. Vladutiu, Ph.D.   University at Buffalo School of Medicine
    6:00-7:00 Dinner – Crocker Dining Hall  
    7:30-10:00  SIMD Business Meeting - Chapel  
Tuesday, March 5
    7:30-8:15 Breakfast – Crocker Dining Hall  
    8:15-12:00 Nutritional Issues in Inborn Errors of Metabolism. Steven Yannicelli, RD, Ph.D., and Rani Singh, Ph.D. Chairs.
    8:15 - 8:45 Fatty acid status of children with PKU treated in the US. Phyllis Acosta, Dr.PH, Ross Products Division/Abbott Laboratories
    8:45 - 9:15 Nutrition issues of pregnancy in women with inborn errors of metabolism Rani Singh, Ph.D. Emory Medical School
    9:15 - 9:45 Brain phenylalanine concentrations as a tool in managing adults with PKU. Rex Moates, Ph.D., Children's Hospital of Los Angeles
    9:45 - 10:00 Q & A Session  
    10:00 - 10:15 Break  sponsored by Ucyclyd Pharma  
    10:15 - 11:00 The role of branched chain amino acid deficiency and protein synthesis in anorexia of patients with organic acidemias. Susan Hutson, Ph.D. Wake Forest University School of Medicine
    11:00 - 11:45 Triheptanoin: A novel approach to treatment of fatty acid oxidation disorders Charles Roe, M.D., Henri Brunengraber, M.D., Ph.D. Baylor University Medical Center and Case Western Reserve University
    11:45 - 12:00 Q & A Session  
    12:00 Lunch – Crocker Dining Hall  
    Afternoon Free  
    6:00-7:00 Dinner – Crocker Dining Hall  
    7:00-8:00 Donough O’Brien Presidential Addresss  - Chapel Tony Velazquez, M.D.
    8:00-10:00 Poster session with Exhibitors present – Fred Farr Forum  
Wednesday, March 6
    7:30-8:30 Breakfast – Crocker Dining Hall  
    8:30-11:30 Joint Symposium of the SIMD and the Garrod Society of Canada.
Clinical Trials in IEMs
Grant Mitchell, M.D., Chair.
    8:30-9:00 Cholesterol therapy in Smith-Lemli-Opitz syndrome. Mira Irons, M.D., Boston Children’s Hospital
    9:00-10:00 NTBC: Should treatment begin before or after symptoms? Grant Mitchell, M.D., Hôpital Ste. Justine, and Ronald Scott, M.D., University of Washington
    10:00-10:30 Emerging therapies for mitochondrial disorders. Bruce Barshop, M.D., PhD., University of California, San Diego
    10:30-11:00 Clinical trial of DHA in the treatment of LCHAD deficiency. Cary Harding, M.D., University of Oregon Health Science Center
    11:00-11:30 Dichoroacetate in the treatment of lactic acidosis. Peter Stacpoole, M.D., Ph.D., University of Florida, Gainesville
    Noon Check out and lunch – Crocker Dining Hall