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)
- Tay-Sachs, Canavan, Sandhoff, GM1 gangliosidosis and related disorders
- Maple Syrup Urine Disease (MSUD)
- Mitochondrial Disease
- Muscular Dystrophy
- Organic Acidemias
- Peroxisomal Disorders
- Phenylketonuria (PKU)
- Pompe Disease (formerly Acid Maltase Deficiency)
- Smith-Lemli-Opitz
- Urea Cycle Disorders
- Wilson Disease
- 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