SOCIETY FOR INHERITED METABOLIC DISORDERS

2002 ANNUAL MEETING

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.
  1:00-1:15

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

Jason S. Weisstein, M.D., MPH, University of California, San Francisco
  1:15-1:30

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
  1:30-1:45

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

Ljubica Caldovic, Ph.D.  Children’s National Medical Center
  1:45-2:00

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
  2:00-2:15

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

Ute Spiekerkoetter, M.D.  Vanderbilt University
  2:15-2:30

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

Gajja Salomons,  Ph.D.  VU University Medical Center, Amsterdam
  2:30-2:45

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

Tim C. Wood, Ph.D.  Greenwood Genetic Center
  2:45-3:00

 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  
  3:30-3:45

Screening for purine and pyrimidine disorders by tandem mass spectrometry.

Murray Potter,   University of British Columbia
  3:45-4:00

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

Lara R. Nyman, M.S.  University of Alabama at Birmingham
  4:00-4:15

Cloning, expression and characterization of human mitochondrial ornithine transporter.

Hiroki Morizono, Ph.D.   Children’s National Medical Center
  4:15-4:30

Rapid screening for mucopolysaccharidoses using tandem mass spectrometry.

David S. Millington,   Duke University Medical Center
  4:30-4:45

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
  4:45-5:00

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

Philip Wood, DVM, Ph.D.  University of Alabama at Birmingham
  5:00-5:15

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