Society for Inherited Metabolic Disorders

SOCIETY FOR INHERITED METABOLIC DISORDERS

Affiliated Organizations
- SIMD - Society for Inherited Metabolic Disorders
- SSIEM, The Society for Study of Inborn Errors of Metabolism
- SEEIM, Sociedad Española de Errores Innatos del Metabolismo
- JSIMD, Japanese Society of Inherited Metabolic Diseases
- SISMME, Societa' Italiana per lo Studio delle Malattie Metaboliche Ereditairie
- Garrod Association - Canadian Association of Centres for the Management of Hereditary Metabolic Diseases
- REDLAEM, Red Latino-Americano sobre Enfermedades Metabolicas Hereditarias
- ASIEM, Australasian Society for Inborn Errors of Metabolism
- SFEIM, Societé Française pour l'Étude des Erreurs Innées du Métabolisme
- APS, Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (Working group for paediatric metabolic disturbances, Germany)
- AECOM, Asociación Española para el Estudio de los Errores Congénitos del Metabolismo
- SIEMI, Society for Inborn Errors of Metabolism of India
- ACMG, The American College of Medical Genetics
- ISNS, International Society for Neonatal Screening
- NSGC, National Society of Genetics Counselors
- NORD: National Organization for Rare Disorders
- MMS: Mitochondrial Medicine Society
Biochemical Genetics Sites
- UCSD Biochemical Genetics site of UCSD Pediatrics, Division of Biochemical Genetics. Includes UCSDW3BG, a www listing of labs and tests in Biochemical Genetics.
- UCSD Cystinosis site of UCSD Pediatrics, Division of Metabolic Disease.
- Newborn Screening Coding and Terminology Guide - National Library of Medicine
- Biopterin Metabolic Defects site maintained by Dr. Nenad Blau at Zurich.
- Chemical standards for clinical diagnosis of inherited metabolic diseases from Dr. Ernesto Brunet, Universidad Autónoma, Madrid.
- Biochemical Genetics Chemical Standards offered by Dr. Herman J. ten Brink, Amsterdam.
- British Inherited Metabolic Disease Group, a consortium for Setting Standards of Care for Inherited Metabolic Disorders.
- Center for Inherited Disorders of Energy Metabolism, Case Western University. Guidelines to clinical evaluation and details of offerings from that laboratory.
- Emory University Medical Genetics, including pages from their Biochemical Genetics Laboratory and a database of Galactose-1-phosphate uridyl transferase mutations.
- ERNDIM, European Research Network for evaluation and improvement of screening, Diagnosis and treatment of Inherited disorders of Metabolism
- European Directory of DNA Laboratories, maintained in Loverval, Belgium.
- Lysosomal Disease Network, Dr. Chester Whitley, University of Minnesota
- Metab-L, a mailing list and informational resource for professionals and others interested in biochemical genetics, maintained by Dr. Christian Renner.
- National Metabolic Biochemistry Network, a group of specialist laboratories providing tests for the diagnosis and management of patients with Inherited Metabolic Disorders, United Kingdom
- Pearson Syndrome international survey, maintained by Dr. Charles Mize, U. Texas Southwestern Medical Center, and others.
- Royal Children's Hospital Clinical Biochemistry, Melbourne, Australia.
- St. Louis University Metabolic Screening Lab, Jim Shoemaker MD PhD, Director.
- Please contact me to amend or append this list.
Mitochondrial Sites
- MRS - Mitochondria Research Society
- MMS - Mitochondrial Medicine Society
- NAMDC - the North American Mitochondrial Disease Consortium
- Mitochondrial Cell Biology - Dr. Gwen Childs, University of Arkansas Medical School
- Mitochondrial and Metabolic Disease Center at UCSD (formerly the Leigh's Center for Children)
- Mitochondria Interest Group, centered at NIH..
- MITONET- Network for Diagnosis & Therapy of Mito Disorders, Germany
- Mitochondria Research Portal (mitochondria.net) - A commercial site supported by a media group, with several useful links to databases, etc.
- EuroMit - Some meeting abstracts are archived.
Research Sites
- General Genetics
  - OnLine Mendelian Inheritance in Man (OMIM): The on-line version of McKusick's classic compendium.
  - OnLine Metabolic and Molecular Bases of Inherited Disease (OMMBID): The on-line version of the definitive text edited by Scriver et al.
  - OMMBID Blog: to permit discussions on the contents of the Online Molecular and Metabolic Bases of Inherited Disorders, and also discussions on new discoveries or endeavours in the field of inherited disorders. Started/Administered by Dr. Philippe Campeau, McGill.
  - KEGG : The Kyoto Encyclopedia of Genes and Genomes.
  - National Center for Biotechnology Information : Home of NCBI, National Library of Medicine, and NIH.
  - Genome Database : Many useful links to biologic and genetic databases around the world.
  - National Library of Medicine : Services and links from the NLM.
  - HGMD: Human Genetic Mutation Database, Cardiff.
  - GeneTests (Formerly Helix): A National Registry of DNA Diagnostic Laboratories and their tests.
  - EDDNAL. European Directory of DNA Laboratories
  - HUGO Mutation Database Initiative: Mutation Research Centre, Melbourne.
  - Hum-Molgen: International communication forum in human molecular genetics.
  - Biochemical Nomenclature. Reports of IUPAC-IUBMB Joint Commission on Biochemical Nomenclature (JCBN) and Nomenclature Committee of the International Union of Biochemistry and Molecular Biology (NC-IUBMB)- maintained by G. P. Moss, Department of Chemistry, Queen Mary and Westfield College, London.
- Biochemical Genetics
  - NetBiochem : Contains several entries of information developed for biochemistry instruction.
  - WIT (What Is There?) (formerly PUMA, including the Selkov Metabolic Pathways, an extensive list (>1000 entries) of enzyme reactions for many phyla, arranged by pathway, substrate and reaction type. A useful review and instructional aid. Valuable for listing of EC numbers.
  - Metabolic Maps and Minimaps, created by Dr. Donald Nicholson, Leeds
  - Mitochondrial Research Society, centered at NIH under Drs. Singh and Zullo.
- Molecular Genetics
  - ExPASy molecular biology WWW server of the Swiss Institute of Bioinformatics.
  - ATCG Biological Reagents : A repository of information and links to biotech company products and services.
  - EMBNet, services from Switzerland.
  - Pedro's BioMolecular Research Tools.
  - HUM-MOLGEN, Human Molecular Genetics Internet Forum. Includes lists of scientific meetings and employment opportunities.
Tutorial and Instructional Sites

Tokyo Medical College Genetics Study Group, with several items of interest, including graphic instructional material. Maintained by Dr. Hironao Numabe.
Twisted Ladder Media, producers of educational multimedia CD-ROMs related to "The New Genetics"- including a course for physicians with CME credit available.

Journals and Publishers

Support Groups and Patient Information
- Association for Glycogen Storage Disease, United Kingdom.
- CanPKU: Canadian PKU and Allied Disorders
- Children's Rare Disease Network: The Project Charity
- CDG Society: Information related to Carbohydrate-Deficient Glycoprotein Syndrome.
- EMDN: Children's Mitochondrial Disease Network, U.K.
- FOD Network On-Line: The Fatty Acid Oxidation Disorder Network, a resource for support, education and communication regarding fatty oxidation disorders.
- Gaucher Disease homepage founded by Wayne Rosenfield, Ph.D. The Gaucher Association is in Dursley, Gloucestershire.
- Lysosomal Disease Network, Dr. Chester Whitley, University of Minnesota
- MHAUS: Malignant Hyperthermia Association of the United States: Support for patients and medical professionals
- Mitochondrial Disease Action Committee: support and advocacy for patients and families affected by mitochondrial disease
- Mitochondrial and Metabolic Disease Center at UCSD (formerly the Leigh's Center for Children)
- National Coalition for PKU and Allied Disorders: Involved with issues related to errors of metabolism requiring low protein diet; USA
- National Information and Advice Centre for Metabolic Diseases / CLIMB (Children Living with Inherited Metabolic Disease), UK/Wordwide
- National Parent-To-Parent Network: Enabling contact among families with rare disorders, sponsored by the Waisman Center, University of Wisconsin.
- National PKU News: Directed and edited by Virginia Schuett, MS, RD, Seattle.
- National PKU Alliance(NPKUA), a national alliance of many local, state, and regional organizations that support PKU families.
- NKH Parent Network: for families with nonketotic hyperglycinemia.
- NORD: National Organization for Rare Disorders
- NUCDF: National Urea Cylce Disorders Foundation
- OAA: The Organic Acidemia Association.
- PKU World Link: Information about phenylketonuria and the community of people with PKU, by Sarah Foster, Boston, Mass., USA
- Rare Genetic Diseases in Children: A resource directory which is valuable for physicians and families alike
- UMDF: United Mitochondrial Disease Foundation
- Please contact me to amend or append this list.