User:Gavivz/Books/Inborn errors of metabolism

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Inborn errors of metabolism[edit]

Inborn errors of metabolism: Inborn error of metabolism; List of disorders included in newborn screening programs; Newborn screening; 2,4 Dienoyl-CoA reductase deficiency; 2-Hydroxyglutaric aciduria; 3 hydroxyisobutyric aciduria; Analbuminaemia; Citrullinemia type I; Congenital disorder of glycosylation; Congenital lactic acidosis; Garrod's tetrad; Genetic studies on Arabs; Glycine encephalopathy; Idiosyncrasy; Lysosomal storage disease; Metab-L; Metascreen; Ornithine aminotransferase deficiency; Sickle Cell Anemia, a Molecular Disease; Sitosterolemia; Succinyl-CoA:3-oxoacid CoA transferase deficiency; Trimethylaminuria; Urine organic acids; Winchester syndrome
Amino acid metabolism disorders‎: Amino acid transport disorder; Congenital disorders of amino acid metabolism; Inborn errors of renal tubular transport; 2-Methylbutyryl-CoA dehydrogenase deficiency; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency; 3-Methylcrotonyl-CoA carboxylase deficiency; 6-Pyruvoyltetrahydropterin synthase deficiency; Alkaptonuria; Aminoacylase 1 deficiency; Argininemia; Argininosuccinic aciduria; Beta-ketothiolase deficiency; Brunner syndrome; Carbamoyl phosphate synthetase I deficiency; Carnosinemia; Cerebral creatine deficiency; Citrullinemia; Cystathioninuria; Cystinosis; Cystinuria; D-Glyceric acidemia; Dicarboxylic aminoaciduria; Dopamine beta hydroxylase deficiency; Fanconi syndrome; Fumarase deficiency; Glutaric acidemia type 2; Glutaric aciduria type 1; Glutathione synthetase deficiency; Guanidinoacetate methyltransferase deficiency; Hartnup disease; Hawkinsinuria; Hermansky–Pudlak syndrome; Histidinemia; Homocystinuria; Hyperaminoacidemia; Hyperammonemia; Hyperglycinemia; Hyperhomocysteinemia; Hyperlysinemia; Hypermethioninemia; Hyperprolinemia; Hypertryptophanemia; Hypervalinemia; Iminoglycinuria; Isobutyryl-coenzyme A dehydrogenase deficiency; Isovaleric acidemia; Lysinuric protein intolerance; Maple syrup urine disease; Methylmalonic acidemia; Methylmalonyl-CoA mutase deficiency; N-Acetylglutamate synthase deficiency; Ochronosis; Ocular albinism; Ocular albinism type 1; Oculocerebrorenal syndrome; Oculocutaneous albinism; Organic acidemia; Ornithine transcarbamylase deficiency; Ornithine translocase deficiency; Phenylketonuria; Piebaldism; Pipecolic acidemia; Prolidase deficiency; Propionic acidemia; Saccharopinuria; Sarcosinemia; Succinic semialdehyde dehydrogenase deficiency; Tetrahydrobiopterin deficiency; Type I tyrosinemia; Tyrosinemia; Tyrosinemia type II; Tyrosinemia type III; Urea cycle disorder; Urocanic aciduria; Waardenburg syndrome
Cholesterol and steroid metabolism disorders‎: 17-beta-hydroxysteroid dehydrogenase deficiency; 5-alpha-reductase deficiency; Antley–Bixler syndrome; Apparent mineralocorticoid excess syndrome; Aromatase deficiency; Aromatase excess syndrome; CHILD syndrome; Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency; Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency; Congenital adrenal hyperplasia due to 21-hydroxylase deficiency; Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency; Conradi–Hünermann syndrome; Desmosterolosis; Glucocorticoid remediable aldosteronism; Hydrops-ectopic calcification-moth-eaten skeletal dysplasia; Hyper-IgD syndrome; Hypercholesterolemia; Inborn errors of steroid metabolism; Lathosterolosis; Lipoid congenital adrenal hyperplasia; Mevalonate kinase deficiency; Pseudovaginal perineoscrotal hypospadias; Smith–Lemli–Opitz syndrome; X-linked ichthyosis
Eicosanoid metabolism disorders‎: Ghosal hematodiaphyseal dysplasia; Glutathionuria; Leukotriene C4 synthase deficiency; Primary hypertrophic osteoathropathy
Fatty-acid metabolism disorders‎: 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; Acute fatty liver of pregnancy; Adrenoleukodystrophy; Carnitine palmitoyltransferase I deficiency; Carnitine palmitoyltransferase II deficiency; Carnitine-acylcarnitine translocase deficiency; Fatty-acid metabolism disorder; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; Malonyl-CoA decarboxylase deficiency; Medium-chain acyl-coenzyme A dehydrogenase deficiency; Mitochondrial trifunctional protein deficiency; Short-chain acyl-coenzyme A dehydrogenase deficiency; Sjögren–Larsson syndrome; Systemic primary carnitine deficiency; Very long-chain acyl-coenzyme A dehydrogenase deficiency
Glycoprotein metabolism disorders‎: Alpha-mannosidosis; Aspartylglucosaminuria; Beta-mannosidosis; Dolichol kinase deficiency; Fucosidosis; Galactosialidosis; Glycoproteinosis; I-cell disease; Mannosidosis; Mucolipidosis; Pseudo-Hurler polydystrophy; Salla disease; Schindler disease; Sialidosis
Heme metabolism disorders‎: Crigler–Najjar syndrome; Dubin–Johnson syndrome; Gilbert's syndrome; Harderoporphyria; Hereditary hyperbilirubinemia; Lucey–Driscoll syndrome; Rotor syndrome; Porphyria; Acute intermittent porphyria; Aminolevulinic acid dehydratase deficiency porphyria; Erythropoietic porphyria; Erythropoietic protoporphyria; Gunther disease; Hepatic porphyria; Hepatoerythropoietic porphyria; Hereditary coproporphyria; Porphyria cutanea tarda; Variegate porphyria
Inborn errors of carbohydrate metabolism‎: 6-phosphogluconate dehydrogenase deficiency; Aldolase A deficiency; Enolase deficiency; Essential fructosuria; Fructose bisphosphatase deficiency; Fructose malabsorption; Galactokinase deficiency; Galactose-1-phosphate uridylyltransferase deficiency; Galactosemia; Galactosemic cataract; Glucose-galactose malabsorption; Glycogen storage disease; Glycogen storage disease type 0; Glycogen storage disease type I; Glycogen storage disease type II; Glycogen storage disease type III; Glycogen storage disease type IV; Glycogen storage disease type V; Glycogen storage disease type VI; Glycogen storage disease type XI; Hereditary fructose intolerance; Hexokinase deficiency; Hyperoxaluria; Inborn errors of carbohydrate metabolism; User:Lgmarti/sandbox; Phosphofructokinase deficiency; Pyruvate carboxylase deficiency; Pyruvate kinase deficiency; Sucrose intolerance; Transaldolase deficiency; Triosephosphate isomerase deficiency
Inborn errors of metal metabolism‎: Aceruloplasminemia; African iron overload; Atransferrinemia; Disorders of calcium metabolism; Ectopic calcification; Hypercalciuria; Inborn errors of metal metabolism; Menkes disease; Occipital horn syndrome; Iron overload
Inborn errors of purine-pyrimidine metabolism‎: Adenine phosphoribosyltransferase deficiency; Adenosine deaminase deficiency; Adenosine monophosphate deaminase deficiency type 1; Adenylosuccinate lyase deficiency; Dihydropyrimidine dehydrogenase deficiency; Gout; Harrison Syndrome; Hyperuricemia; Inborn errors of purine–pyrimidine metabolism; Lesch–Nyhan syndrome; Miller syndrome; Mitochondrial neurogastrointestinal encephalopathy syndrome; Orotic aciduria; Purine nucleoside phosphorylase deficiency; Xanthinuria
Lipid metabolism disorders‎: Abetalipoproteinemia; Apolipoprotein B deficiency; Chylomicron retention disease; Familial dysbetalipoproteinemia; Familial hypercholesterolemia; Familial hypertriglyceridemia; Inborn error of lipid metabolism; Hypertriglyceridemia; Hypoalphalipoproteinemia; Hypobetalipoproteinemia; Hypolipoproteinemia; Lecithin cholesterol acyltransferase deficiency; Lipomatosis; Lipoprotein lipase deficiency; Tangier disease; Urbach–Wiethe disease
Lysosomal storage diseases‎: Acid sphingomyelinase; Fabry disease; Lysosome; Molecular chaperone therapy; Mucolipidosis type IV; Pycnodysostosis; Tay–Sachs disease; Lipid storage disorder; Acid lipase disease; Batten disease; Canavan disease; Cerebrotendineous xanthomatosis; Cholesteryl ester storage disease; Farber disease; Gangliosidosis; Gaucher's disease; GM1 gangliosidoses; GM2 gangliosidoses; GM2-gangliosidosis, AB variant; Infantile neuronal ceroid lipofuscinosis; Jansky–Bielschowsky disease; Krabbe disease; Lysosomal acid lipase deficiency; Metachromatic leukodystrophy; Multiple sulfatase deficiency; Neuronal ceroid lipofuscinosis; Niemann–Pick disease; Niemann–Pick disease, SMPD1-associated; Niemann–Pick disease, type C; Pelizaeus–Merzbacher disease; Sandhoff disease; Sphingolipidoses; Sulfatidosis; Wolman disease; History of Tay–Sachs disease; Prevention of Tay–Sachs disease; Sociological and cultural aspects of Tay–Sachs disease; Hereditary multiple exostoses; Hunter syndrome; Hurler syndrome; Maroteaux–Lamy syndrome; Morquio syndrome; Mucopolysaccharidosis; Sanfilippo syndrome; Sly syndrome; Spondyloepimetaphyseal dysplasia, Pakistani type
Phospholipid metabolism disorders‎: 3-Methylglutaconic aciduria; Barth syndrome; Hyperphosphatasia with mental retardation syndrome
Proteoglycan metabolism disorders‎
Skin conditions resulting from errors in metabolism‎: Amyloid purpura; Amyloidosis; Anderson-Fabry disease; Anderson–Fabry disease; Angiokeratoma corporis diffusum; Broad beta disease; Bullosis diabeticorum; Bullous eruption of diabetes mellitus; CADASIL syndrome; Calcinosis cutis; Carotenoderma; Carotenosis; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy syndrome; Chylomicronemia; Chylomicronemia syndrome; Combined hyperlipidemia; Congenital erythropoietic porphyria; Diabetic bulla; Diabetic cheiroarthropathy; Diabetic dermadrome; Diabetic dermopathy; Doss porphyria; Dystrophic calcinosis cutis; Eruptive xanthoma; Familial alpha-lipoprotein deficiency; Transthyretin-related hereditary amyloidosis; Familial combined hyperlipidemia; Familial defective apolipoprotein B-100; Fibrocytic dysmucopolysaccharidosis; Gargoylism; Haemodialysis-associated amyloidosis; Hereditary gelsolin amyloidosis; Heredofamilial amyloidosis; Hurler–Scheie syndrome; Hyalinosis cutis et mucosae; Hyaluronidase deficiency; Iatrogenic calcinosis cutis; Idiopathic calcified nodules of the scrotum; Idiopathic scrotal calcinosis; Juvenile gout; Lafora disease; Lipogranulomatosis; Lipoid proteinosis; Medication-induced hyperlipoproteinemia; Metastatic calcinosis cutis; Milia-like calcinosis; Mixed hepatic porphyria; Mixed porphyria; Mucopolysaccharidosis type I; Mucopolysaccharidosis type I H-S; Mucopolysaccharidosis type I S; Mucopolysaccharidosis type IV; Mucopolysaccharidosis type IX; Mucopolysaccharidosis type VI; Multiple-type hyperlipoproteinemia; Myxedema; Necrobiosis lipoidica; Necrobiosis lipoidica diabeticorum; Nodular xanthoma; Normolipoproteinemic xanthomatosis; Osteoma cutis; Palmar xanthoma; Pellagra-like dermatosis; Phytosterolemia; Plane xanthoma; Plumboporphyria; Primary cutaneous amyloidosis; Primary systemic amyloidosis; Pseudoporphyria; Pseudoporphyria cutanea tarda; Purpuric phototherapy-induced eruption; Remnant removal disease; Scheie syndrome; Secondary cutaneous amyloidosis; Secondary systemic amyloidosis; Shin spots; Solitary congenital nodular calcification; South African genetic porphyria; South African porphyria; Subepidermal calcified nodule; Tendinous xanthoma; Transient erythroporphyria of infancy; Traumatic calcinosis cutis; Tuberoeruptive xanthoma; Tuberous xanthoma; Urate crystal arthropathy; Urate deposition disease; Verruciform xanthoma; Waxy skin; Winer's nodular calcinosis; Xanthelasma; Xanthelasma palpebrarum; Xanthoma; Xanthoma diabeticorum; Xanthoma planum; Xanthoma striatum palmare; Xanthoma tendinosum; Xanthoma tuberosum; Xanthomatosis; Xanthomatous biliary cirrhosis
TCA and ETC metabolism disorders‎: Björnstad syndrome; Coenzyme Q10 deficiency; GRACILE syndrome; Leigh disease
Vitamin, coenzyme, and cofactor metabolism disorders‎: Arakawa's syndrome II; Biotinidase deficiency; Familial isolated vitamin E deficiency; Holocarboxylase synthetase deficiency; Molybdenum cofactor deficiency; Multiple carboxylase deficiency; Neurodegeneration with brain iron accumulation; Pantothenate kinase-associated neurodegeneration