Biochemical Genetics
Patient and Family Resources
Conditions
- Congenital disorders of glycosylation (CDG)
- Creatine deficiencies
- Fatty acid oxidation disorders
- Galactosemia
- Glycogen storage diseases
- Homocystinuria and disorders of B12 metabolism
- Lysosomal storage disorders
- Batten disease and the NCLs
- Fabry disease
- Gaucher disease
- Mucopolysaccharidosis (MPS)
- Pompe disease (formerly acid maltase deficiency)
- Tay-Sachs, Canavan, Sandhoff, GM1 gangliosidosis and related disorders
- Maple syrup urine disease (MSUD)
- Mitochondrial disease
- Muscular dystrophy
- Organic acidemias
- Peroxisomal disorders
- Phenylketonuria (PKU)
- Smith-Lemli-Opitz
- Urea cycle disorders
- Wilson disease
- X-linked adrenoleukodystrophy (XALD)
Useful Resources at Seattle Children’s
- Support Groups
- Paying for Care
- Health Information Management and Medical Records Requests
- Resources for Patients and Families
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
- Center for Chronic Illness
