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

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