Disease Class
** All
Amino acid disorders
Lysosomal storage diseases
Heme synthesis disorders
Carbohydrate disorders
Organic acidemias
Metal and trace element disorders
Fatty acid oxidation, carnitine, ketone metabolism defects
Urea cycle defects
Neurotransmitter metabolism defects
Mitochondrial disorders
Creatine synthesis disorders
Peroxisomal disorders
Vitamin & cofactor metabolism defects
Glycan metabolism disorders
Other metabolic disorders
Lipid metabolism disorders
Cholesterol metabolism disorders
Disease
** All
Acute intermittent porphyria (AIP)
Alkaptonuria
Arginase deficiency
Aromatic L-amino acid decarboxylase deficiency
Barth syndrome
Batten disease
Biotinidase Deficiency
Carnitine palmitoyltransferase (CPT) II deficiency
Carnitine update defect (CUD)
Creatine synthesis disorders
Cystinosis
D-2-hydroxyglutaric aciduria
Erythropoietic protoporphyria (EPP)
Fabry disease
Galactosemia
Gaucher disease
Glut-1 deficiency
Glutaric acidemia type I
Glycogen storage disease (GSD) type III
Glycogen storage disease type I
Hemochromatosis
Hereditary coproporphyria (HCP)
Homocystinuria
Hypophosphatasia (B6)
Isovaleric Acidemia
Krabbe disease
L-2-hydroxyglutaric aciduria
Leber hereditary optic neuropathy (LHON)
Long chain fatty acid oxidation defects
Long chain hydroxyacyl CoA dehydrogenase (LCHAD) deficiency
Maple syrup urine disease (MSUD)
Medium chain acyl CoA dehydrogenase (MCAD) deficiency
Menkes disease
Metachromatic leukodystrophy (MLD)
Methylmalonic acidemia (MMA)
Mitochondrial Encephalomyopathy, Lactic Acidemia, Stroke-like episodes (MELAS)
Mucolipidosis type IV
Mucopolysaccharidosis type I (Hurler disease)
Mucopolysaccharidosis type II (Hunter disease)
Mucopolysaccharidosis type III (Sanfilippo disease)
Neuronal cell lipofuscinosis
Ornithine transcarbamylase (OTC) deficiency
Phenylketonuria (PKU)
Pompe disease
Propionic acidemia (PA)
Rhizomelic chondrodysplasia punctata (RCDP)
Tango II metabolic encephalopathy and arrhythmias
Tay Sachs disease
Tyrosinemia type I
Very long chain acyl CoA dehydrogenase (VLCAD) deficiency
Wilson disease
X-linked adrenoleukodystrophy (xALD)