MARCH 4-7, 2001

08:30 - 13:30 Hyatt Regency ACMG Complimentary Sessions See attached Session Sheet for ACMG  
12:00 -18:30 Executive 
Board Room
14:00 -17:30 Hyatt Regency  What's new in inborn errors of metabolism (Workshop at ACMG)  Chair: 
Edward R.B. McCabe, MD, PhD
PKU: Consensus conference approach to clinical guidelines  R. Rodney Howell, MD 
(University of Miami)
Modifier genes and metabolic disease phenotypes  Edward McCabe, MD, PhD 
BREAK (15 min)
Fetal origin of adult diseases: metabolic imprinting  Sherin Devaskar, MD 
Inherited metabolic diseases give insight into cell biology William A. Gahl, MD, PhD 
Multipotent stem cells for treatment of metabolic diseases Markus Grompe, MD 
(Oregon Health Sciences U)
19:00 -22:00 Poolside RECEPTION AT WYNDHAM

07:00 -12:00 Executive  Board Room REGISTRATION
07:00 - 08:30 Grand Promenade BREAKFAST
08:30 -12:00 Mediterranean Room East Metabolic diseases that affect the brain Chair: 
Richard I. Kelley, MD, PhD
Holoprosencephaly and the role of cholesterol in brain development Maximilian Muenke, MD 
Pathophysiology and treatment of  non-ketotic hyperglycinemia Ada Hamosh, MD, MPH 
(Johns Hopkins)
Organic acidurias, excitotoxicity, and windows of vulnerability Richard I. Kelley, MD, PhD 
(Johns Hopkins)
BREAK (20 min)
Maple syrup disease: a model disorder of cerebral amino acid transport D. Holmes Morton, MD 
(Clinic for Special Children)
Cerebral glucose transporter deficiency Darryl Devivo, MD 
(Columbia University)
12:00 -13:00 Grand Promenade LUNCH
13:00 - 17:00 Mediterranean Room East Inborn errors of metabolism in adults new developments Chair: 
Cheryl R. Greenberg, MD, CM
Maternal Illness in Pregnancy and Metabolic Disease Cheryl R. Greenberg, MD, CM
(University of Manitoba)
Clinical Biochemical and Molecular Aspects of Hemochromatosis Victor Herbert, MD, JD
(Mount Sinai School of Medicine)
Transitioning to adult care - what we can do to help our youth with IEM who are growing up - the ON-TRAC program Mary Paone, RN, MSN  (Children's & Women's Health Centre of British Columbia)
BREAK (30 Minutes)
Advances in Porphyria Robert J. Desnick, PhD, MD 
(Mount Sinai School of Medicine)
Glycogen Storage Disorders - Natural History to Adulthood Y.T. Chen, MD, PhD 
(Duke University)
Mitochondrial Disorders in Adulthood Douglas C. Wallace, PhD 
(Emory University)
17:30 - 18:30 Starlight Room DINNER
19:00 - 21:00 Short Presentations including travel award winners Chair: Louis Elsas, MD 
(Emory University)


07:00 - 08:30 Grand Promenade BREAKFAST
08:30 - 12:30 Mediterranean Room East Homocysteine,  folate and cobalamin metabolism Chair: David S. Rosenblatt, MD
Mutation analysis in classical homocystinuria due to cystathionine synthase deficiency Jan P.  Kraus, PhD 
(University of Colorado)
Inborn Errors of Folate and Cobalamin Metabolism resulting in homocystinuria David S.  Rosenblatt, MD 
(McGill University)
Methylenetetrahydrofolate reductase-mouse model Rima Rozen, PhD 
(McGill University)
BREAK (30 min)
Folate receptors and malformations Richard H. Finnell, PhD 
(Nebraska Medical Center)
Molecular and pathogenic aspects of cubilin, the intrinsic factor-cobalamin (vitamin B12) receptor Soren K. Moestrup, MD, PhD
 (University of Aarhus)
Methionine synthase reductase: reduction activation system for methionine synthase Roy A. Gravel, PhD 
(University of Calgary)
12:30 - 13:30 Regency Conference Room Board of Director's Meeting
13:30 - 18:00 FREE AFTERNOON
18:00 - 19:00 Grand Promenade DINNER
19:00 - 20:30 Mediterranean Room East Presidential Address and Business Meeting
20:30 - 22:00 Mediterranean Room East Poster Session

07:00 - 08:30 Grand Promenade BREAKFAST
08:30 -12:00 Mediterranean Room East What's new in newborn screening? Chair: Edwin W. Naylor, PhD, MPH
Potential use of DNA microarrays in newborn screening. Mark Schena, PhD
(Stanford University)
Newborn screening for lysosomal storage disorders using LAMP-1, LAMP-2, and saponins Peter Meikle, PhD (Women's and Children's Hospital, Adelaide, Australia)
BREAK (20 min)
Use of electrospray tandem mass spectrometry for newborn screening for hemoglobinopathies Mike Morris, PhD
(Micromass, Manchester, UK)
To be announced Massimo Pietropaolo, MD
(University of Pittsburgh)
Development of tandem mass spectrometry steroid metabolic profiling for the detection of inborn errors of steroidogenesis Piero Rinaldo, MD, PhD
(Mayo Clinic)