Metabolic and Mitochondrial Disorders

CMA

Acyl-CoA Dehydrogenase Deficiency

Adrenoleukodystrophy

Anemia

Butyrylcholinesterase Deficiency

Congenital Disorder Of Glycosylation

Cystinosis

Disorders of Fatty Acid Oxidation

Fabry Disease

Fanconi-Bickel Syndrome (Glycogen Storage Disease Type XI)

GM1 Gangliodisosis

Galactosemia

Gaucher Disease

Gitelman syndrome

Glucose-6-Phosphate Dehydrogenase Deficiency

Glutaric Acidemia

Glycine encephalopathy (aka: nonketotic hyperglycinemia)

Glycogen Storage Disease

Glycogen Storage Disease Type IV

Glycogen Storage Disease, Type V (McArdle Disease)

Hepatolenticular Degeneration

Hereditary Hemochromatosis Type 4

Hyperammonemia

Hypercalcemic and Hypocalcemic Disorders

Hypercholesterolemia

Hyperoxaluria

Hyperphenylalaninemia

Hypomagnesemia

Hypoparathyroidism

Hypothyroidism

Krabbe Disease (Globoid Cell Leukodystrophy)

Leber Congenital Amaurosis

Leukodystrophy

Leukoencephalopathy

Lipid Storage Disorders

Medium Chain Acyl-CoA Dehydrogenase Deficiency

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance

Metachromatic Leukodystrophy

Milroy Disease (Lymphedema Type I)

Mitochondrial Complex Deficiencies

Mitochondrial Disorders

Mitochondrial Neurogastrointestinal Encephalopathy Disease

Morquio Type B

Mucopolysaccharidosis

Mucopolysaccharidosis Type 1

Mucopolysaccharidosis Type IVB

Multiple Carboxylase Deficiency

Niemann-Pick Disease

Organic Acidurias

Peroxisomal Disorders

Phenylalanine Hydroxylase Deficiency

Propionic Acidemia

Pyruvate Dehydrogenase Complex Deficiency

Retinal Dystrophies

Smith-Lemli-Opitz Syndrome

Succinyl-CoA:3-oxoacid CoA transferase deficiency

Tay-Sachs Disease (GM2 Gangliosidosis Type 1)

Thyroid Hormone Resistance

Trimethylaminuria

Tyrosinemia Type 1

Wilson Disease

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