Template:Metabolic pathology

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v • d • e Inborn errors of amino acid metabolism (E70-72, 270) K Lysine/straight chain Glutaric acidemia type 1 - type 2 - Hyperlysinemia - Pipecolic acidemia - Saccharopinuria Leucine Maple syrup urine disease - Isovaleric acidemia - 3-Methylcrotonyl-CoA carboxylase deficiency - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency G→pyruvate Glycine Sarcosinemia - D-Glyceric acidemia - Glutathione synthetase deficiency G→alpha-ketoglutarate Glutamate/glutamine SSADHD Proline Hyperprolinemia - Prolidase deficiency Histidine Carnosinemia - Histidinemia - Urocanic aciduria G→succinyl-CoA Methionine Hypermethioninemia - Homocystinuria - Cystathioninuria Valine Maple syrup urine disease - Hypervalinemia - Isobutyryl-CoA dehydrogenase deficiency Isoleucine Maple syrup urine disease - Beta-ketothiolase deficiency - 2-Methylbutyryl-CoA dehydrogenase deficiency General BC/OA Propionic acidemia - Methylmalonic acidemia G→fumarate Phenylalanine/tyrosine Phenylketonuria - Alkaptonuria - Ochronosis - Tyrosinemia (Hawkinsinuria) Tetrahydrobiopterin deficiency G→oxaloacetate Urea cycle/Hyperammonemia (arginine, aspartate) N-Acetylglutamate synthase deficiency - Carbamoyl phosphate synthetase I deficiency - Ornithine transcarbamylase deficiency/translocase deficiency - Citrullinemia - Argininosuccinic aciduria - Argininemia Transport Cystinuria - Hartnup disease - Oculocerebrorenal syndrome - Lysinuric protein intolerance - Inborn errors of renal tubular transport (Cystinosis, Fanconi syndrome) Tyrosine→Melanin Albinism: Ocular albinism - Oculocutaneous albinism (Hermansky-Pudlak syndrome) - Waardenburg syndrome Glycine→Creatine GAMT deficiency Other Trimethylaminuria - 2-Hydroxyglutaric aciduria - Fumarase deficiency see also Amino acid metabolism enzymes, Urea cycle enzymes, intermediates

v • d • e Inborn error of carbohydrate metabolism (including glycogen storage diseases) (E73-74, 271) Disaccharide catabolism Lactose intolerance - Sucrose intolerance Monosaccharide catabolism fructose: Essential fructosuria - Fructose intolerance galactose/galactosemia : Galactokinase deficiency - Galactose-1-phosphate uridylyltransferase galactosemia - Galactose epimerase deficiency Monosaccharide transport Glucose-galactose malabsorption - Inborn errors of renal tubular transport (Renal glycosuria) Glycolysis GSD type VII, Tarui's, phosphofructokinase - Triosephosphate isomerase deficiency - Pyruvate kinase deficiency Pyruvate catabolism PDHA - Fumarase deficiency Gluconeogenesis PCD - Fructose bisphosphatase deficiency - GSD type I, von Gierke, glucose 6-phosphatase Glycogenesis GSD type 0, glycogen synthase - GSD type IV, Andersen's, branching Glycogenolysis GSD type II, Pompe's, glucosidase - GSD type III, Cori's, debranching - GSD type V, McArdle, glycogen phosphorylase/GSD type VI, Hers', glycogen phosphorylase - GSD type I, von Gierke, glucose 6-phosphatas Pentose phosphate pathway Glucose-6-phosphate dehydrogenase deficiency - Pentosuria Other Hyperoxaluria see also glycolysis enzymes, pentose phosphate pathway enzymes, fructose and galactose metabolism enzymes

v • d • e Inborn error of lipid metabolism - Lysosomal storage diseases - lipid storage disorders (E75, 272.7-272.8, 330.0-330.1) Sphingolipidoses Gangliosidoses: GM1 gangliosidoses, GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease, AB variant) Fabry's disease - Gaucher's disease sulfated: Leukodystrophy (Metachromatic leukodystrophy, Krabbe disease) ceramide: Farber disease phospholipid: Niemann-Pick disease Neuronal ceroid lipofuscinosis Infantile - Jansky-Bielschowsky disease - Batten disease Other Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman disease) see also glycolipid metabolism enzymes

v • d • e Inborn error of carbohydrate metabolism - Lysosomal storage diseases - glycosaminoglycan metabolic pathology (E76, 277.5) Mucopolysaccharidosis (Glycosaminoglycans) 1:Hurler/Scheie - 2:Hunter - 3:Sanfilippo ABCD - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly

v • d • e Lipid metabolism disorders / Inborn error of lipid metabolism - dyslipidemia (E78 and E71.3, 272) Hyperlipidemia Hypercholesterolemia/Hypertriglyceridemia (Familial hypercholesterolemia, Combined hyperlipidemia) - Xanthoma Hypolipoproteinemia Hypoalphalipoproteinemia/HDL (Lecithin cholesterol acyltransferase deficiency, Tangier disease) Hypobetalipoproteinemia/LDL (Abetalipoproteinemia, Apolipoprotein B deficiency) Lipodystrophy Barraquer-Simons syndrome Fatty acid metabolism deficiency transport: Carnitine (Primary, I, II, -acylcarnitine) - Adrenoleukodystrophy beta oxidation: Acyl CoA dehydrogenase (Short-chain, Medium-chain, Long-chain 3-hydroxy, Very long-chain) - Mitochondrial trifunctional protein deficiency to acetyl-CoA: Malonic aciduria Cholesterol synthesis Smith-Lemli-Opitz syndrome Other Sjögren-Larsson syndrome - Lipomatosis - Adiposis dolorosa see also lipid metabolism enzymes, lipoprotein metabolism

v • d • e Inborn errors of purine-pyrimidine metabolism (E79, 277.2) Purine metabolism Anabolism Adenylosuccinate lyase deficiency Nucleotide salvage Lesch-Nyhan syndrome/Hyperuricemia - Adenine phosphoribosyltransferase deficiency Catabolism Adenosine deaminase deficiency - Purine nucleoside phosphorylase deficiency - Xanthinuria - Gout Pyrimidine metabolism Anabolism Orotic aciduria Catabolism Dihydropyrimidine dehydrogenase deficiency see also nucleotide metabolism, intermediates

v • d • e Inborn errors of metal metabolism (E83, 275) Cu Wilson's disease - Menkes disease Fe Primary iron overload disorder: Haemochromatosis (Juvenile) - Aceruloplasminemia - Atransferrinemia Zn Acrodermatitis enteropathica PO43− Hyperphosphatemia - Hypophosphatemia - Hypophosphatasia Mg2+ Hypermagnesemia - Hypomagnesemia Ca2+ Hypercalcaemia - Hypocalcaemia - Pseudohypoparathyroidism - Pseudopseudohypoparathyroidism Biotin Biotinidase deficiency - Holocarboxylase synthetase deficiency

v • d • e Water-electrolyte imbalance and acid-base imbalance (E86-E87, 276) Volume status Dehydration/Hypervolemia - Hypovolemia Electrolyte Na+ Hypernatremia/Hyponatremia K+ Hyperkalemia/Hypokalemia Cl− Hyperchloremia/Hypochloremia Acid-base Acidosis: Metabolic - Respiratory - Lactic - Ketosis Alkalosis: Metabolic, Respiratory Mixed disorder of acid-base balance

v • d • e Other metabolic pathology / Inborn error of metabolism (E70-90, 270-279) Other Alpha 1-antitrypsin deficiency - Cystic fibrosis - Acatalasia