Welcome To Our Site

About Us

Tests
Offered

Shipping
Information

Research

Useful Links

The pages listed under the following topics are not maintained by Partners HealthCare System. We are not responsible for any information found on them.

·        Disease-specific sites / family support groups

·        Low-protein food products

·        Databases

·        Journals

·        Professional Organizations

·        Other Resources

Disease-specific sites / family support groups
Sites specific to one metabolic disorder or a group of related disorders.

• National Organization for Rare Disorders
• Biotinidase Deficiency Family Support Group
• Fatty Oxidation Disorder (FOD) Communication Network
• Parents of Galactosemic Children, Inc.
• The International Organization of Glutaric Acidemia
• National Society for Phenylketonuria
• Children's PKU Network
• PKU.com
• United Mitochondrial Disease Foundation
• MSUD Family Support Group
• Non-Ketotic Hyperglycinemia - International Family Network
• Organic Acidemia Association
• Tyrosinemia, type 1
• National Urea Cycle Disorders Foundation
• Urea Cycle Disorders Consortium

top of page

Sources for Low-protein food products

• Applied Nutrition Corp.
• Cambrooke Foods
• Dietary Specialties
• Ener-G Foods
• Med-Diet
• SHS/Nutricia Loprofin® low-protein foods
• Specialty Food Shop

top of page

Databases

• Gene Tests
  A directory of medical genetics laboratories and clinics
• On-line Mendelian Inheritance in Man (OMIM)
  A catalog of human genes and genetic disorders
• UCSD Biochemical Genetics Test List
  List of biochemical genetic laboratory services; search by lab, by test, by type of test, or by disease
• USDA National Nutrient Database
  Look up the protein and amino acid content of various foods
• NutritionData Nutrient Database
  Generates nutrition facts labels and provides simplified nutritional analyses. Includes information on many fast foods.

top of page

Journals

• Americal Journal of Human Genetics
• Genetics in Medicine
• Journal of Inherited Metabolic Disease
• Molecular Genetics and Metabolism

top of page

Professional Organizations

• National Society of Genetic Counselors
• Society for Inherited Metabolic Disorders (SIMD)
• Society for Study of Inborn Errors of Metabolism (SSIEM)
• The American College of Medical Genetics

top of page

Other Resources

• Metab-L
  A computer mailing-list discussion forum on inborn errors of metabolism for professionals in the field
• New England Newborn Screening Program
• New England Regional Genetics Group (NERGG)

top of page