Clinical Genetics

Patient and Family Education

Resources at Seattle Children's


Congenital disorders of glycosylation (CDG)

Creatine deficiencies

Fatty acid oxidation disorders


Glycogen storage diseases

Homocystinuria and disorders of B12 metabolism

Lysosomal storage disorders

Maple syrup urine disease (MSUD)

Mitochondrial disease

Muscular dystrophy

Organic acidemias

Peroxisomal disorders

Phenylketonuria (PKU)


Urea cycle disorders

Wilson disease

X-linked adrenoleukodystrophy (XALD)

Tests and Procedures

Recommended Reading

Other Resources

Newborn screening