بیماری های متابولیک و میتوکندریایی

3 Methylcrotonyl-CoA Carboxylase Deficiency
Acyl-CoA Dehydrogenase Deficiency
Adrenoleukodystrophy
Biotinidase Deficiency
Butyrylcholinesterase Deficiency
Coenzyme Q10 Deficiency
Congenital Disorder of Glycosylation
Copper Metabolism Disorders
Cystinosis
Disorders of Fatty Acid Oxidation
Disorders of Folate Metabolism and Transport
Fabry Disease
Fetal and Neonatal Loss
Galactosemia
Gaucher Disease
Gitelman syndrome
Glucose-6-Phosphate Dehydrogenase Deficiency
Glutaric Acidemia
Glycine Encephalopathy
Glycogen Storage Disease
Hepatolenticular Degeneration
Hereditary Hemochromatosis Type 4
Homocystinuria
Hydrops Fetalis
Hyperammonemia
Hypercalcemic and Hypocalcemic Disorders
Hyperinsulinism
Hypermethioninemia
Hyperoxaluria
Hyperphenylalaninemia
Hypoglycemia
Hypomagnesemia
Hypoparathyroidism
Hypothyroidism
Krabbe Disease (Globoid Cell Leukodystrophy)
Leigh and Leigh-Like Syndrome
Lipid Storage Disorders
Lipodystrophy
Maturity-Onset Diabetes of the Young
Medium Chain Acyl-CoA Dehydrogenase Deficiency
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
Ophthalmoplegia
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
Urea Cycle Disorders
Wilson Disease