User:Gavivz/Books/Inborn errors of metabolism

Inborn errors of metabolism

 * 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