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Biochemical Genetics

Patient and Family Resources

Conditions

Congenital disorders of glycosylation (CDG)
- CDG CARE
- N-glycanase deficiency (NGLY1)
Creatine Deficiencies
- Association for Creatine Deficiencies
Fatty Acid Oxidation Disorders
- Fatty acid oxidation disorder Support group
Galactosemia
- Galactosemia Foundation
Glycogen Storage Diseases
- Association for Glycogen Storage Disease
- UK Association for Glycogen Storage Disease
Homocystinuria and disorders of B12 Metabolism
- Homocystinuria and disorders of B12 metabolism
Lysosomal Storage Disorders
- Batten Disease and the NCLs
  - Batten Disease Support and Research Association
- Fabry Disease
  - Fabry Support and Information Group
- Gaucher Disease
  - National Gaucher Foundation
- Mucopolysaccharidosis (MPS)
  - National MPS society
- Tay-Sachs, Canavan, Sandhoff, GM1 gangliosidosis and related disorders
  - NTSAD
Maple Syrup Urine Disease (MSUD)

MSUD Family Support Group

Mitochondrial Disease
- UMDF
- Mito Action
Muscular Dystrophy
- Muscular Dystrophy Association
Organic Acidemias
- Organic Acidemia Association
Peroxisomal Disorders
- Global Foundation for Peroxisomal Disorders
Phenylketonuria (PKU)
- National PKU Alliance
Pompe Disease (formerly Acid Maltase Deficiency)
Smith-Lemli-Opitz
- Smith-Lemli-Opitz RSH Foundation
Urea Cycle Disorders
Wilson Disease
- Wilson Disease Association
X-linked Adrenoleukodystrophy (XALD)

Useful Links

ClinicalTrials.gov
Genetics and Rare Disease
- The Journey Through Diagnosis
- Genetic and Rare Diseases Information Center
- NORD: Provides financial support and patient support
- Global Genes
Healthy Children from the American Academy of Pediatrics
Make-A-Wish

Newborn Screening

Contact Us

Seattle Children's Bellevue Clinic and Surgery Center
425-454-4644

Seattle Children's Hospital
206-987-2000

Spokane
509-474-3810

More Contact Information

©1995–2022 Seattle Children’s Hospital

4800 Sand Point Way NE,

Seattle,

WA

98105

206-987-2000

866-987-2000 (toll-free)

206-987-0391 (TTY)

Seattle Children’s complies with applicable federal and other civil rights laws and does not discriminate, exclude people or treat them differently based on race, color, religion (creed), sex, gender identity or expression, sexual orientation, national origin (ancestry), age, disability, or any other status protected by applicable federal, state or local law. Financial assistance for medically necessary services is based on family income and hospital resources and is provided to children under age 21 whose primary residence is in Washington, Alaska, Montana or Idaho.