Metabolic and Mitochondrial Disorders

CMA

3 Methylcrotonyl-CoA Carboxylase Deficiency

Acyl-CoA Dehydrogenase Deficiency

Adrenoleukodystrophy

Butyrylcholinesterase Deficiency

Coenzyme Q10 Deficiency

Congenital Disorder Of Glycosylation

Cystinosis

Disorders of Fatty Acid Oxidation

Disorders of Folate Metabolism and Transport

Fabry Disease

Galactosemia

Gaucher Disease

Gitelman syndrome

Glucose-6-Phosphate Dehydrogenase Deficiency

Glutaric Acidemia

Glycine Encephalopathy

Glycogen Storage Disease

Hepatolenticular Degeneration

Hereditary Hemochromatosis Type 4

Homocystinuria

Hyperammonemia

Hypercalcemic and Hypocalcemic Disorders

Hypermethioninemia

Hyperoxaluria

Hyperphenylalaninemia

Hypomagnesemia

Hypoparathyroidism

Hypothyroidism

Krabbe Disease (Globoid Cell Leukodystrophy)

Leber Congenital Amaurosis

Leigh and Leigh-Like Syndrome

Lipid Storage Disorders

Lipodystrophy

Maturity-Onset Diabetes Of The Young

Medium Chain Acyl-CoA Dehydrogenase Deficiency

Metabolic Hypoglycemia

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance

Metabolism of Cobalamin, Folate and Homocysteine

Methylmalonic Acidemia

Methylmalonic Aciduria and Homocystinuria

Milroy Disease (Lymphedema Type I)

Mitochondrial Complex Deficiencies

Mitochondrial Disorders

Mucopolysaccharidosis

Neonatal Crisis/Illness

Niemann-Pick Disease

Obesity

Organic Acidurias

Peroxisomal Disorders

Phenylalanine Hydroxylase Deficiency

Porphyria

Propionic Acidemia

Pseudohypoaldosteronism

Pyruvate Dehydrogenase Complex Deficiency

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

Urea Cycle Disorders

Wilson Disease

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