SE-ATLAS

Kohlenhydrat-Stoffwechselstörung Alkaptonurie Porphyrin- und Häm-Stoffwechselstörung Fett-Stoffwechselstörung Metabolitenstoffwechsel- und Transportstörungen Aminosäure/organische Säuren-Stoffwechselstörung Energiestoffwechselstörung Stoffwechselstörung, sonstige Argininbernsteinsäure-Krankheit Acrodermatitis enteropathica Lysosomale Glykogen-Speicherkrankheit Carnitin-Palmitoyl-Transferase IA-Mangel Dyslipidämie, seltene syndromale Saure Phosphatase-Mangel, lysosomaler Glukoneogenese-Störung Neonatale epileptische Enzephalopathie durch Glutaminase-Mangel Glykogenose Typ 7 Dyslipidämie, seltene CLN12-Krankheit Sterolbiosynthesedefekt Aminoazidurie, hyperdibasische, Typ 1 Glykogenose Typ 2 Ceroid-Lipofuszinose, neuronale, infantile Koproporphyrie, hereditäre Transiente Tyrosinämie des Neugeborenen Greenberg-Dysplasie Mukolipidose Oligosaccharidose Glykogenose Typ 4 Ceroid-Lipofuszinose, neuronale, adulte Ceroid-Lipofuszinose, neuronale, juvenile Hyperprolinämie Typ I Glykogenose durch Phosphorylase-Kinase-Mangel Störung der Lysosomen-verwandten Organellen Lysosomale Speicherkrankheit Seltene angeborene Stoffwechselstörung Peroxisomale Krankheit Tryptophan-Stoffwechselstörung Hyperinsulinismus-Hyperammonämie-Syndrom Störung der Phospholipid-, Sphingolipid- und Fettsäure-Biosynthese Lysin und Hydroxylysin-Stoffwechselstörung Saccharopinurie Glutamin-Stoffwechselstörung Sarkosinämie Sialinsäure-Stoffwechselstörung Ornithin-Stoffwechselstörung Prolin-Stoffwechselstörung Argininämie Hyperinsulinismus, anstrengungsinduzierter Histidinämie Histidinurie-Nierentubulusdefekt-Syndrom Organische Azidurie Homocarnosinose Phenylalanin-Stoffwechselstörung Dicarboxyl-Hyperaminoazidurie Carbamoyl-Phosphat-Synthetase 1-Mangel Tyrosin-Stoffwechselstörung Hyperlysinämie CADDS Haim-Munk-Syndrom Hydroxykynureninurie 2-Aminoadipin-2-Oxo-Adipin-Azidurie Syndrom der Krampfanfälle mit Intelligenzminderung und Hydroxylysinurie Harnstoffzyklusdefekt und Störung der Ammoniak-Entgiftung Aminosäureaufnahme- und Transport-Störung Gallensäuresynthesedefekt Störung des Methionin-/schwefelhaltige Aminosäuren-Stoffwechsels Hämoxygenase 1-Mangel Fettsäureoxidationsstörungen und Ketogenesedefekt Glycerol-Stoffwechselstörung Histidin-Stoffwechselstörung Farber-Krankheit Ketokörper-Stoffwechselstörung Ornithin/Prolin-Stoffwechselstörung Carnosinase-Mangel Peptid-Stoffwechselstörung Phenylalanin/Tyrosin-Stoffwechselstörung Pyridoxin-Stoffwechselstörung Serin/Glycin-Stoffwechselstörung Gamma-Glutamyl-Zyklus-Störung Galaktosialidose Glykogenose Galaktosämie Sphingolipidose Glycoproteinose Verzweigte Aminosäuren-Stoffwechselstörung Fruktose-1,6-Bisphosphatase-Mangel GM1-Gangliosidose Lipidspeicherkrankheit Lysosomaler Aminosäure-Transportdefekt Mukopolysaccharidose Spastische Ataxie mit Dysarthrie durch Glutaminase-Mangel Fatale infantile Laktatazidose mit Methylmalonazidurie Succinat-Semialdehyd-Dehydrogenase-Mangel Okulo-zerebro-renales Syndrom Lowe Hyperammonämische Enzephalopathie durch Carboanhydrase VA-Mangel Glutathionsynthetase-Mangel Rotor-Syndrom Fanconi-Bickel-Syndrom Sialidose Glykogenose Typ 12 Bilirubin-Stoffwechselstörung Galaktose-Mutarotase-Mangel Alpha-N-Acetylgalactosaminidase-Mangel Hartnup-Syndrom Hawkinsinurie Vitamin- und nicht-Protein Kofaktor-Stoffwechsel- und Transportstörungen Iminoglycinurie Aspartylglukosaminurie Sialurie Malabsorption durch Gallensäuresynthesedefekt, idiopathische Form AICA-Ribosidurie Hypermethioninämie durch Glycin N-Methyltransferase-Mangel Leber-Optikusneuropathie, hereditäre Barth-Syndrom Seltene Hypercholesterinämie Diamond-Blackfan-Anämie Butyrylcholinesterase-Mangel, hereditärer Glykogenose mit schwerer Kardiomyopathie durch Glycogenin-Mangel Beta-Ketothiolase-Mangel Succinat-Coenzym-Q-Reduktase-Mangel, isolierter Dimethylglycin-Dehydrogenase-Mangel Ornithin-Transcarbamylase-Mangel Carnitin-Mangel, primärer systemischer Carnitin-Acylcarnitin-Translokase-Mangel Phenylketonurie, maternale Letale Ataxie mit Schwerhörigkeit und Optikusatrophie Papillon-Lefèvre-Syndrom TMEM70-abhängige mitochondriale Enzephalokardiomyopathie Rare hyperlipidemia Progressive familial intrahepatic cholestasis Hypertryptophanemia Disorder of beta and omega amino acid metabolism Rare major hypertriglyceridemia Rare hypolipidemia Hyperalphalipoproteinemia Citrullinemia Hemolytic anemia due to glucophosphate isomerase deficiency Disorder of asparagine metabolism Urocanic aciduria Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Cystinuria Neuronal ceroid lipofuscinosis Porphyria Dubin-Johnson syndrome Disorder of fructose metabolism Autosomal recessive cutis laxa type 2 Congenital bile acid synthesis defect type 4 Disorder of galactose metabolism Hyperprolinemia type 2 Disorder of glyoxylate metabolism Pyruvate metabolism disorder Pancreatic triacylglycerol lipase deficiency X-linked sideroblastic anemia Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Congenital sucrase-isomaltase deficiency Lysosomal acid lipase deficiency Glycogen storage disease due to lactate dehydrogenase deficiency Disorder of keton body transport Rare hereditary hemochromatosis Glucose transport disorder Tay-Sachs disease Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome Fucosidosis Triose phosphate-isomerase deficiency Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to muscle glycogen phosphorylase deficiency Pancreatic colipase deficiency Glycogen storage disease due to liver glycogen phosphorylase deficiency Combined pancreatic lipase-colipase deficiency Classic galactosemia Galactose epimerase deficiency Leber plus disease Blue diaper syndrome Metabolic disease due to other fatty acid oxidation disorder Homocystinuria due to cystathionine beta-synthase deficiency Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Hereditary xanthinuria Disorder of carnitine cycle and carnitine transport Mild phenylketonuria Glycine encephalopathy Acid sphingomyelinase deficiency Dysbetalipoproteinemia Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome Acatalasemia Primary hyperoxaluria Maple syrup urine disease Essential fructosuria Fumaric aciduria Oxoglutaric aciduria Alpha-mannosidosis Disorder of mineral absorption and transport Multiple sulfatase deficiency Familial chylomicronemia syndrome Beta-mannosidosis Benign recurrent intrahepatic cholestasis Carnitine palmitoyltransferase II deficiency Chédiak-Higashi syndrome Phenylketonuria Crigler-Najjar syndrome Disorder of neutral amino acid transport Disorder of carbohydrate absorption and transport Severe combined immunodeficiency due to adenosine deaminase deficiency Sandhoff disease Mitochondrial disease Tricarboxylic acid cycle disorder Disorder of lipid absorption and transport Desmosterolosis Mitochondrial neurogastrointestinal encephalomyopathy Glycogen storage disease due to glycogen synthase deficiency Phosphoenolpyruvate carboxykinase deficiency Disorder of cobalamin metabolism and transport Disorder of pentose phosphate metabolism Neurometabolic disorder due to serine deficiency Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Gangliosidosis Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Acute intermittent porphyria Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency Hypoalphalipoproteinemia Hypobetalipoproteinemia Isolated complex III deficiency Acute hepatic porphyria Atypical hypotonia-cystinuria syndrome Congenital glucokinase-related hyperinsulinism Glycogen storage disease due to phosphoglycerate mutase deficiency Lysinuric protein intolerance Primary hypomagnesemia-refractory seizures-intellectual disability syndrome Familial juvenile hyperuricemic nephropathy type 1 Kearns-Sayre syndrome Chronic diarrhea due to glucoamylase deficiency Mitochondrial oxidative phosphorylation disorder Trehalase deficiency Krabbe disease Chronic visceral acid sphingomyelinase deficiency Infantile neurovisceral acid sphingomyelinase deficiency Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency Leigh syndrome Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Cardiomyopathy-hypotonia-lactic acidosis syndrome Congenital neuronal ceroid lipofuscinosis MELAS MERRF Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Late infantile neuronal ceroid lipofuscinosis Bilirubin encephalopathy Isolated complex I deficiency X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome Porphyria due to ALA dehydratase deficiency Disorder of pterin metabolism Mucolipidosis type II Mucolipidosis type III Mucolipidosis type IV Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 4 Mucopolysaccharidosis type 6 Mucopolysaccharidosis type 7 Disorder of other vitamins and cofactors metabolism and transport Disorder of iron metabolism and transport Congenital brain dysgenesis due to glutamine synthetase deficiency Neu-Laxova syndrome Porphyria variegata 3-Phosphoglycerate dehydrogenase deficiency Polyglucosan body myopathy type 1 Hyperzincemia and hypercalprotectinemia NARP syndrome Niemann-Pick disease type C Arthrogryposis-renal dysfunction-cholestasis syndrome Disorder of thiamine metabolism and transport Mitochondrial DNA-related progressive external ophthalmoplegia ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement Polyglucosan body myopathy type 2 Pearson syndrome X-linked Charcot-Marie-Tooth disease type 5 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Niemann-Pick disease type E Alpers-Huttenlocher syndrome Genetic primary hypomagnesemia Prolidase deficiency Citrullinemia type I Severe primary trimethylaminuria Severe X-linked mitochondrial encephalomyopathy Pycnodysostosis Pyruvate dehydrogenase deficiency Glycerol kinase deficiency Glycogen storage disease due to LAMP-2 deficiency Pentosuria Citrin deficiency 5-oxoprolinase deficiency Gamma-glutamyl transpeptidase deficiency Glutamate-cysteine ligase deficiency Sialidosis type 1 Bile acid synthesis defect with cholestasis and malabsorption X-linked erythropoietic protoporphyria Ketoacidosis due to monocarboxylate transporter-1 deficiency Erythropoietic uroporphyria associated with myeloid malignancy Succinyl-CoA:3-oxoacid CoA transferase deficiency Free sialic acid storage disease Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Sialidosis type 2 Coenzyme Q10 deficiency Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Leigh syndrome with cardiomyopathy Hypotonia-cystinuria syndrome 2p21 microdeletion syndrome Unspecified mitochondrial disorder Glutaric acidemia type 3 De Barsy syndrome Mitochondrial DNA depletion syndrome, myopathic form Progressive epilepsy-intellectual disability syndrome, Finnish type Hyper-beta-alaninemia Serine biosynthesis pathway deficiency, infantile/juvenile form GM2 gangliosidosis Sandhoff disease, infantile form Congenital erythropoietic porphyria D-glyceric aciduria Sandhoff disease, juvenile form Autosomal erythropoietic protoporphyria Sandhoff disease, adult form Hypotonia-cystinuria type 1 syndrome Hepatoerythropoietic porphyria Lipoic acid biosynthesis defect GRACILE syndrome Porphyria cutanea tarda Hereditary fructose intolerance Disorder of melanin metabolism Disorder of folate metabolism and transport Hyaluronidase deficiency 3-phosphoserine phosphatase deficiency, infantile/juvenile form Glycogen storage disease due to muscle beta-enolase deficiency Mitochondrial membrane transport disorder Hyperammonemia due to N-acetylglutamate synthase deficiency Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Chronic hepatic porphyria Pyruvate carboxylase deficiency Metachromatic leukodystrophy Combined hyperlipidemia Glycogen storage disease due to glucose-6-phosphatase deficiency Sterol metabolism disorder Disorders of pentose/polyol metabolism Disorder of fatty acid oxidation and ketogenesis Chronic neurovisceral acid sphingomyelinase deficiency Galactokinase deficiency