SE-ATLAS

Disorder of carbohydrate metabolism Alkaptonuria Disorder of porphyrin and heme metabolism Disorder of lipid metabolism Disorder of metabolite absorption and transport Disorder of amino acid and other organic acid metabolism Disorder of energy metabolism Other metabolic disease Argininosuccinic aciduria Acrodermatitis enteropathica Lysosomal glycogen storage disease Carnitine palmitoyl transferase 1A deficiency Rare syndromic dyslipidemia Lysosomal acid phosphatase deficiency Gluconeogenesis disorder Neonatal epileptic encephalopathy due to glutaminase deficiency Glycogen storage disease due to muscle phosphofructokinase deficiency Rare dyslipidemia ATP13A2-related juvenile neuronal ceroid lipofuscinosis Sterol biosynthesis disorder Hyperdibasic aminoaciduria type 1 Glycogen storage disease due to acid maltase deficiency Infantile neuronal ceroid lipofuscinosis Hereditary coproporphyria Transient tyrosinemia of the newborn Greenberg dysplasia Mucolipidosis Oligosaccharidosis Glycogen storage disease due to glycogen branching enzyme deficiency Adult neuronal ceroid lipofuscinosis Juvenile neuronal ceroid lipofuscinosis Hyperprolinemia type 1 Glycogen storage disease due to phosphorylase kinase deficiency Disorder of lysosomal-related organelles Lysosomal disease Rare inborn errors of metabolism Peroxisomal disease Disorder of tryptophan metabolism Hyperinsulinism-hyperammonemia syndrome Disorder of phospholipids, sphingolipids and fatty acids biosynthesis Disorder of lysine and hydroxylysine metabolism Saccharopinuria Disorder of glutamine metabolism Sarcosinemia Disorder of sialic acid metabolism Disorder of ornithine metabolism Disorder of proline metabolism Argininemia Exercise-induced hyperinsulinism Histidinemia Histidinuria-renal tubular defect syndrome Organic aciduria Homocarnosinosis Disorder of phenylalanine metabolism Dicarboxylic aminoaciduria Carbamoyl-phosphate synthetase 1 deficiency Disorder of tyrosine metabolism Hyperlysinemia CADDS Haim-Munk syndrome Hydroxykynureninuria 2-aminoadipic 2-oxoadipic aciduria Seizures-intellectual disability due to hydroxylysinuria syndrome Disorder of urea cycle metabolism and ammonia detoxification Disorder of amino acid absorption and transport Disorder of bile acid synthesis Disorder of methionine cycle and sulfur amino acid metabolism Heme oxygenase-1 deficiency Disorder of fatty acid oxidation and ketone body metabolism Disorder of glycerol metabolism Disorder of histidine metabolism Farber disease Disorder of ketolysis Disorder of ornithine or proline metabolism Carnosinase deficiency Disorder of peptide metabolism Disorder of phenylalanin or tyrosine metabolism Disorder of pyridoxine metabolism Disorder of serine or glycine metabolism Disorder of the gamma-glutamyl cycle Galactosialidosis Glycogen storage disease Galactosemia Sphingolipidosis Glycoproteinosis Disorder of branched-chain amino acid metabolism Fructose-1,6-bisphosphatase deficiency GM1 gangliosidosis Lipid storage disease Disorder of lysosomal amino acid transport Mucopolysaccharidosis Spastic ataxia-dysarthria due to glutaminase deficiency Fatal infantile lactic acidosis with methylmalonic aciduria Succinic semialdehyde dehydrogenase deficiency Oculocerebrorenal syndrome of Lowe Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Glutathione synthetase deficiency Rotor syndrome Fanconi-Bickel syndrome Sialidosis Glycogen storage disease due to aldolase A deficiency Disorder of bilirubin metabolism and excretion Galactose mutarotase deficiency Alpha-N-acetylgalactosaminidase deficiency Hartnup disease Hawkinsinuria Disorder of vitamin and non-protein cofactor absorption and transport Iminoglycinuria Aspartylglucosaminuria Sialuria Idiopathic malabsorption due to bile acid synthesis defects AICA-ribosiduria Hypermethioninemia due to glycine N-methyltransferase deficiency Leber hereditary optic neuropathy Barth syndrome Rare hypercholesterolemia Diamond-Blackfan anemia Hereditary butyrylcholinesterase deficiency Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Beta-ketothiolase deficiency Isolated succinate-CoQ reductase deficiency Dimethylglycine dehydrogenase deficiency Ornithine transcarbamylase deficiency Systemic primary carnitine deficiency Carnitine-acylcarnitine translocase deficiency Maternal phenylketonuria Lethal ataxia with deafness and optic atrophy Papillon-Lefèvre syndrome TMEM70-related mitochondrial encephalo-cardio-myopathy 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 Arthrogrypose-Nierenfunktionsstörung-Cholestase-Syndrom Thiamin-Stoffwechsel- und Transportstörungen Ophthalmoplegie, chronische externe progressive, maternal-vererbte ITPA-assoziierte letale infantile neurologische Störung mit Katarakt und kardialer Beteiligung Polyglucosan-Körper-Myopatie Typ 2 Pearson-Syndrom Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 5 Glykogenose durch Phosphoglycerat-Kinase 1-Mangel Niemann-Pick-Krankheit Typ E Alpers-Huttenlocher-Syndrom Hypomagnesiämie, primäre, genetisch bedingte Prolidase-Mangel Zitrullinämie Typ 1 Trimethylaminurie, primäre schwere Enzephalomyopathie, mitochondriale, schwere, X-chromosomale Pyknodysostose Pyruvat-Dehydrogenase-Mangel Glycerol-Kinase-Mangel Danon-Krankheit Pentosurie Citrin-Mangel 5-Oxoprolinase-Mangel Gamma-Glutamyltranspeptidase-Mangel Glutamat-Cystein-Ligase-Mangel Sialidose Typ 1 Gallensäuresynthesedefekt mit Cholestase und Malabsorption Protoporphyrie, erythropoetische, X-chromosomale Ketoazidose durch Monocarboxylat-Transporter 1-Mangel Uroporphyrie, erythropoetische, mit assoziierter myeloischer Neoplasie Succinyl-CoA:3-Ketosäure-CoA-Transferase-Mangel Sialinsäure-Speicherkrankheit Hämolytische Anämie durch erythrozytäre Adenosin-Desaminase-Überproduktion Sialidose Typ 2 Coenzym Q10-Mangel Laktatazidose, kongenitale, Typ Saguenay-Lac-St. Jean Leigh-Syndrom - Kardiomyopathie Hypotonie-Cystinurie-Syndrom Mikrodeletionssyndrom 2p21 Mitochondriale Krankheit, unspezifische Glutarazidurie Typ 3 De Barsy-Syndrom TK2-assoziiertes mitochondriales DNA-Depletionssyndrom, myopathische Form Nordische Epilepsie Hyper-beta-Alaninämie Serinbiosynthese-Signalweg-Defizienz, infantile/juvenile Form GM2-Gangliosidose Sandhoff-Krankheit, infantile Form Porphyrie, erythropoetische kongenitale D-Glycerat-Kinase-Mangel Sandhoff-Krankheit, juvenile Form Protoporphyrie, erythropoetische, autosomale Form Sandhoff-Krankheit, adulte Form Hypotonie-Cystinurie-Syndrom Typ 1 Porphyrie, hepatoerythropoetische (HEP) Liponsäure-Biosynthese-Defekt GRACILE-Syndrom Porphyria cutanea tarda (PCT) Fruktoseintoleranz, hereditäre Melanin-Stoffwechselstörung Folsäure-Stoffwechsel- und Transportstörung Hyaluronidasemangel 3-Phosphoserin-Phosphatase-Mangel, infantile/juvenile Form Glykogenose durch muskulären beta-Enolase-Mangel Mitochondriale Membrantransportstörung Hyperammonämie durch N-Acetylglutamat-Synthetase-Mangel Autosomal-rezessive zerebelläre Ataxie-Pyramidenbahnzeichen-Nystagmus-okulomotorische Apraxie-Syndrom Porphyrie, chronische hepatische Pyruvat-Carboxylase-Mangel Leukodystrophie, metachromatische Hyperlipidämie, kombinierte Glykogenose Typ 1 Sterol-Stoffwechselstörung Störung des Pentose/Polyol-Stoffwechels Störung der Fettsäureoxidation und Ketogenese Chronisch neuroviszerale saure Sphingomyelinase-Mangel Galaktokinase-Mangel