Metabolism, Inborn Errors
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3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
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3-Hydroxyacyl-CoA Dehydrogenase Deficiency
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3-Methylglutaconic Aciduria
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3-Methylglutaconic Aciduria, Type I
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3-Methylglutaconic Aciduria Type IV
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3-Methylglutaconic Aciduria, Type V
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5-Nucleotidase syndrome
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6-Phosphogluconolactonase Deficiency
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Acetylcarnitine deficiency
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Acholinesterasemia
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Acid Phosphatase Deficiency
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Adenine phosphoribosyltransferase deficiency
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alpha-Fetoprotein Deficiency
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Amino Acid Metabolism, Inborn Errors
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Amino Acid Transport Disorders, Inborn
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Amobarbital, Deficient N-Hydroxylation of
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Amyloidosis, Familial
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Arene Oxide Detoxification Defect
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Aromatase deficiency
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Aryl Hydrocarbon Hydroxylase Inducibility
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Brain Diseases, Metabolic, Inborn
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Butyrylcholinesterase deficiency
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Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
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Carbohydrate Metabolism, Inborn Errors
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CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
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Carnitine Acetyltransferase Deficiency
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Carnitine palmitoyl transferase 2 deficiency
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Chromate Resistance
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Combined Malonic and Methylmalonic Aciduria
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Combined Oxidative Phosphorylation Deficiency 1
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
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Combined Oxidative Phosphorylation Deficiency 4
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Combined Oxidative Phosphorylation Deficiency 5
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9
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Congenital chloride diarrhea
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Copper deficiency, familial benign
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Costeff optic atrophy syndrome
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Coumarin Resistance
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Coumarin Sensitivity
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CREATINE PHOSPHOKINASE, ELEVATED SERUM
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Cytochrome-c Oxidase Deficiency
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Deafness hyperuricemia neurologic ataxia
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Deoxyribose-5-Phosphate Aldolase Deficiency
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Diarrhea 3, Secretory Sodium, Congenital
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Diarrhea 3, Secretory Sodium, Congenital, Syndromic
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Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency
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Dihydropyrimidinase Deficiency
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Diphenylhydantoin, Defect in Hydroxylation of
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Drug Metabolism, Poor, CYP2C19-Related
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Drug Metabolism, Poor, CYP2D6-Related
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Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
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EFAVIRENZ, POOR METABOLISM OF
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Enterokinase Deficiency
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ERYTHROCYTOSIS, FAMILIAL, 8
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Ethanolaminosis
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Familial gynecomastia, due to increased aromatase activity
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Finnish lethal neonatal metabolic syndrome
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Fumaric aciduria
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Glucocorticoid Receptor Deficiency
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Glutamate formiminotransferase deficiency
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Glycoprotein Storage Disease
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Glyoxalase II Deficiency
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Growth Factors, Combined Defect of
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HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
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HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
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Hyaluronan Metabolism, Defect in
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Hyperbilirubinemia, Hereditary
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Hypercalcemia, Idiopathic, of Infancy
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HYPERCHLORHIDROSIS, ISOLATED
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Hypoadiponectinemia
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Hypokalemia, Familial
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Hypoproteinemia, Hypercatabolic
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Inosine Triphosphatase Deficiency
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Intrinsic Factor and R Binder, Combined Congenital Deficiency of
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Kallikrein, Decreased Urinary Activity of
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Lactate Dehydrogenase B Deficiency
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Lactic Aciduria due to D-Lactic Acid
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LEPTIN DEFICIENCY OR DYSFUNCTION
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LEPTIN RECEPTOR DEFICIENCY
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Leukotriene C4 Synthase Deficiency
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L-Gulonolactone Oxidase, Nonfunctional
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Lipid Metabolism, Inborn Errors
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LIPOYLTRANSFERASE 1 DEFICIENCY
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LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
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Lysosomal Storage Diseases
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Malonic aciduria
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Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type
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Mannose-Binding Protein Deficiency
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Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
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Metal Metabolism, Inborn Errors
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Methemoglobin Reductase Deficiency
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Methylcobalamin Deficiency, CblG Type
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Methylmalonyl-Coenzyme A mutase deficiency
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Mitochondrial Complex II Deficiency
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Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive
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MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY
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Myeloperoxidase Deficiency
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N acetyltransferase deficiency
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Pancreatic Insufficiency, Combined Exocrine
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Peroxisomal Disorders
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Phenacetin O-Deethylase, Deficiency of
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Phenol sulfotransferase deficiency
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Phosphoglycerate Kinase 1 Deficiency
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Progeria
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Proguanil, Poor Metabolism of
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Purine-Pyrimidine Metabolism, Inborn Errors
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Renal Tubular Transport, Inborn Errors
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Retinol-Binding Protein Deficiency
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Steroid Metabolism, Inborn Errors
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Stomatocytosis I
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Stomatocytosis II
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Succinic Acidemia
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THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE)
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THYROTROPIN-RELEASING HORMONE DEFICIENCY
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Transcobalamin I Deficiency
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Trimethylaminuria
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TRYPSINOGEN DEFICIENCY
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Warfarin Sensitivity
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Weinstein Kliman Scully syndrome
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Wiedemann Oldigs Oppermann syndrome
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Xanthinuria, Type I
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