Patient and Family Education
Resources at Seattle Children's
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
- National Urea Cycle Disorders Foundation
- UDC in Common
- Connecting Families UCD
- Urea cycle disorders consortium
Wilson disease
X-linked adrenoleukodystrophy (XALD)
Tests and Procedures
- Genetic testing basics
- Insurance Coverage for Genetic Testing (PDF) (Somali) (Spanish)
- Prenatal tests
- SNP Array: Pre-test counseling information – PE1456 (PDF) (Arabic) (Amharic) (Russian) (Simplified Chinese) (Somali) (Spanish) (Vietnamese)
Recommended Reading
- Support Groups
- Paying for Care
- Health Information Management and Medical Records Requests
- Resources for Patients and Families
Other Resources
- ClinicalTrials.gov
- Medline Plus
- National Organization for Rare Disorders (NORD)
- Unique (Rare Chromosome Disorder Support Group)
- Healthy Children from the American Academy of Pediatrics
- Make-A-Wish
- Center for Chronic Illness
- National Society of Genetic Counselors