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 Disorder of biogenic amine metabolism and transport Other metabolic disease Neonatal epileptic encephalopathy due to glutaminase deficiency Argininosuccinic aciduria Acrodermatitis enteropathica Lysosomal glycogen storage disease Carnitine palmitoyl transferase 1A deficiency Rare syndromic dyslipidemia Lysosomal acid phosphatase deficiency Gluconeogenesis disorder Glycogen storage disease due to muscle phosphofructokinase deficiency Rare dyslipidemia Hyperdibasic aminoaciduria type 1 ATP13A2-related juvenile neuronal ceroid lipofuscinosis Sterol biosynthesis disorder Transient tyrosinemia of the newborn Glycogen storage disease due to acid maltase deficiency Brain dopamine-serotonin vesicular transport disease Infantile neuronal ceroid lipofuscinosis Hereditary coproporphyria Mucolipidosis Greenberg dysplasia Oligosaccharidosis Glycogen storage disease due to glycogen branching enzyme deficiency Glycogen storage disease due to phosphorylase kinase deficiency Disorder of purine or pyrimidine metabolism Adult neuronal ceroid lipofuscinosis Juvenile neuronal ceroid lipofuscinosis Hyperprolinemia type 1 Congenital disorder of glycosylation Disorder of lysosomal-related organelles Lysosomal disease Rare inborn errors of metabolism Peroxisomal disease Gamma-aminobutyric acid transaminase deficiency Glycoproteinosis 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 neurotransmitter metabolism and transport Disorder of bile acid synthesis Disorder of methionine cycle and sulfur amino acid metabolism Creatine deficiency syndrome Heme oxygenase-1 deficiency Disorder of gamma-aminobutyric acid metabolism 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 Peroxisome biogenesis disorder Disorder of purine metabolism Disorder of phenylalanin or tyrosine metabolism Disorder of pyrimidine metabolism Disorder of pyridoxine metabolism Disorder of serine or glycine metabolism Disorder of branched-chain amino acid metabolism Fructose-1,6-bisphosphatase deficiency Disorder of the gamma-glutamyl cycle Galactosialidosis Glycogen storage disease Galactosemia GM1 gangliosidosis Gaucher disease Lipid storage disease Disorder of lysosomal amino acid transport Mucopolysaccharidosis Metabolic disease involving other neurotransmitter deficiency Sphingolipidosis Sterol metabolism disorder Disorders of pentose/polyol metabolism Glycine encephalopathy Acid sphingomyelinase deficiency Dysbetalipoproteinemia Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Metachromatic leukodystrophy Oculocerebrorenal syndrome of Lowe Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Disorder of peroxisomal alpha-, beta- and omega-oxidation Disorder of bilirubin metabolism and excretion Disorder of vitamin and non-protein cofactor absorption and transport Disorder of mineral absorption and transport Multiple sulfatase deficiency Rare hypercholesterolemia Dimethylglycine dehydrogenase deficiency Ornithine transcarbamylase deficiency Disorder of glyoxylate metabolism Disorder of carbohydrate absorption and transport Pyruvate metabolism disorder Sandhoff disease Mitochondrial disease Tricarboxylic acid cycle disorder Disorder of lipid absorption and transport Pancreatic triacylglycerol lipase deficiency X-linked sideroblastic anemia Disorder of keton body transport Phosphoenolpyruvate carboxykinase deficiency Tay-Sachs disease Triose phosphate-isomerase deficiency Pancreatic colipase deficiency Combined pancreatic lipase-colipase deficiency Neurometabolic disorder due to serine deficiency Disorder of fatty acid oxidation and ketogenesis Blue diaper syndrome Metabolic disease due to other fatty acid oxidation disorder Disorder of carnitine cycle and carnitine transport Zellweger syndrome Gangliosidosis Acatalasemia Hyperammonemia due to N-acetylglutamate synthase deficiency Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Rare hyperlipidemia Disorder of beta and omega amino acid metabolism Rare hypolipidemia Disorder of asparagine metabolism Urocanic aciduria Cystinuria Neuronal ceroid lipofuscinosis Disorder of neutral amino acid transport Disorder of glycolysis Disorder of galactose metabolism Primary hyperoxaluria Maple syrup urine disease Papillon-Lefèvre syndrome Hemolytic anemia due to glucophosphate isomerase deficiency Phenylketonuria Porphyria Chronic hepatic porphyria Pyruvate carboxylase deficiency Essential fructosuria Spastic ataxia-dysarthria due to glutaminase deficiency Fatal infantile lactic acidosis with methylmalonic aciduria Succinic semialdehyde dehydrogenase deficiency Fumaric aciduria Hereditary orotic aciduria Oxoglutaric aciduria Glutathione synthetase deficiency Rotor syndrome Fanconi-Bickel syndrome Sialidosis Adenosine monophosphate deaminase deficiency Adenylosuccinate lyase deficiency Glycogen storage disease due to aldolase A deficiency Alpha-mannosidosis Galactose mutarotase deficiency Alpha-N-acetylgalactosaminidase deficiency Hartnup disease Hawkinsinuria Familial chylomicronemia syndrome Iminoglycinuria Aspartylglucosaminuria Sialuria Idiopathic malabsorption due to bile acid synthesis defects AICA-ribosiduria Disorder of protein N-glycosylation Hypermethioninemia due to glycine N-methyltransferase deficiency Leber hereditary optic neuropathy Barth syndrome Beta-mannosidosis Diamond-Blackfan anemia Hereditary butyrylcholinesterase deficiency Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Beta-ketothiolase deficiency Isolated succinate-CoQ reductase deficiency Benign recurrent intrahepatic cholestasis Phosphoribosylpyrophosphate synthetase superactivity PGM1-CDG Carnitine palmitoyltransferase II deficiency Systemic primary carnitine deficiency Carnitine-acylcarnitine translocase deficiency Maternal phenylketonuria Lethal ataxia with deafness and optic atrophy Chédiak-Higashi syndrome TMEM70-related mitochondrial encephalo-cardio-myopathy Progressive familial intrahepatic cholestasis Hypertryptophanemia Rare major hypertriglyceridemia Hyperalphalipoproteinemia Citrullinemia Disorder of protein O-glycosylation Disorder of plasmalogens biosynthesis Primary hypomagnesemia with secondary hypocalcemia Crigler-Najjar syndrome Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Dubin-Johnson syndrome Disorder of fructose metabolism Autosomal recessive cutis laxa type 2 Congenital bile acid synthesis defect type 4 Folinic acid-responsive seizures Hyperprolinemia type 2 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Disorder of multiple glycosylation Severe combined immunodeficiency due to adenosine deaminase deficiency X-linked creatine transporter deficiency Desmosterolosis Mitochondrial neurogastrointestinal encephalomyopathy Glycogen storage disease due to glycogen synthase deficiency 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 cobalamin metabolism and transport Rare hereditary hemochromatosis Glucose transport disorder Primary hypomagnesemia with hypercalciuria and nephrocalcinosis Disorder of pentose phosphate metabolism Peroxisomal beta-oxidation disorder Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome Fucosidosis Combined hyperlipidemia Glycogen storage disease due to glucose-6-phosphatase deficiency Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to muscle glycogen phosphorylase deficiency Glycogen storage disease due to liver glycogen phosphorylase deficiency Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Guanidinoacetate methyltransferase deficiency Chronic neurovisceral acid sphingomyelinase deficiency Galactokinase deficiency Classic galactosemia Galactose epimerase deficiency Leber plus disease Homocystinuria due to cystathionine beta-synthase deficiency Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Hereditary xanthinuria Mild phenylketonuria Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome Congenital erythropoietic porphyria Acute intermittent porphyria Autosomal erythropoietic protoporphyria Hypoalphalipoproteinemia Hypobetalipoproteinemia Isolated complex III deficiency Lipoic acid biosynthesis defect Congenital glucokinase-related hyperinsulinism Lysinuric protein intolerance Disorder of melanin metabolism Krabbe disease Niemann-Pick disease type E Prolidase deficiency Severe primary trimethylaminuria Pycnodysostosis Acute hepatic porphyria Hypotonia-cystinuria type 1 syndrome GRACILE syndrome Hyaluronidase deficiency Chronic diarrhea due to glucoamylase deficiency Infantile neurovisceral acid sphingomyelinase deficiency 3-phosphoserine phosphatase deficiency, infantile/juvenile form Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Congenital neuronal ceroid lipofuscinosis MERRF Late infantile neuronal ceroid lipofuscinosis Mucolipidosis type II Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 6 Hereditary fructose intolerance Kearns-Sayre syndrome Mitochondrial oxidative phosphorylation disorder Trehalase deficiency Chronic visceral acid sphingomyelinase deficiency Leigh syndrome Glycogen storage disease due to muscle beta-enolase deficiency CAD-CDG MELAS Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease 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 III Mucolipidosis type IV Disorder of catecholamine synthesis Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 4 Mucopolysaccharidosis type 7 Disorder of copper metabolism Disorder of zinc metabolism and transport Disorder of magnesium transport Disorder of manganese transport Congenital brain dysgenesis due to glutamine synthetase deficiency Porphyria variegata NARP syndrome Niemann-Pick disease type C Dihydropyrimidine dehydrogenase deficiency Disorder of thiamine metabolism and transport Polyglucosan body myopathy type 2 X-linked Charcot-Marie-Tooth disease type 5 Alpers-Huttenlocher syndrome Autosomal dominant primary hypomagnesemia with hypocalciuria Purine nucleoside phosphorylase deficiency Glycerol kinase deficiency Beta-ureidopropionase deficiency Glycogen storage disease due to LAMP-2 deficiency Pentosuria Disorder of other vitamins and cofactors metabolism and transport Disorder of iron metabolism and transport Hypoxanthine-guanine phosphoribosyltransferase deficiency Neu-Laxova syndrome 3-Phosphoglycerate dehydrogenase deficiency Polyglucosan body myopathy type 1 Hyperzincemia and hypercalprotectinemia Arthrogryposis-renal dysfunction-cholestasis syndrome Mitochondrial DNA-related progressive external ophthalmoplegia ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement Isolated autosomal dominant hypomagnesemia, Glaudemans type Pearson syndrome Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Genetic primary hypomagnesemia Citrullinemia type I Severe X-linked mitochondrial encephalomyopathy Pyruvate dehydrogenase deficiency 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 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Sialidose Typ 2 Coenzym Q10-Mangel Laktatazidose, kongenitale, Typ Saguenay-Lac-St. Jean Leigh-Syndrom - Kardiomyopathie EGF-assoziierte primäre Hypomagnesiämie mit Intelligenzminderung Hypotonie-Cystinurie-Syndrom Störungen der Mitochondrienmembran (Transport) Mikrodeletionssyndrom 2p21 Mitochondriale Krankheit, unspezifische L-Arginin:Glycin-Amidinotransferase-Mangel Glutarazidurie Typ 3 De Barsy-Syndrom Mitochondriales DNA-Depletionssyndrom, myopathische Form Epilepsie, progressive - Intelligenzminderung, Finnischer Typ Hyper-beta-Alaninämie Serinbiosynthese-Signalweg-Defizienz, infantile/juvenile Form GM2-Gangliosidose Sandhoff-Krankheit, infantile Form Zerebelläre Ataxie durch GRID2-Mangel, autosomal-rezessive kongenitale D-Glycerat-Kinase-Mangel Sandhoff-Krankheit, juvenile Form Sandhoff-Krankheit, adulte Form Porphyrie, hepatoerythropoetische (HEP) Atypische Hypotonie-Cystinurie-Syndrom Adenin-Phosphoribosyl-Transferase-Mangel Glykogenose durch Phosphoglycerat-Mutase-Mangel Porphyria cutanea tarda (PCT) Dihydropyrimidinurie Syndrom der primären Hypomagnesiämie mit refraktären Krämpfen und Intelligenzminderung Nephropathie, familiäre hyperurikämische juvenile, Typ 1 Folsäure-Stoffwechsel- und Transportstörung Hypercholesterinämie durch Cholesterol 7-alpha-Hydroxylase-Mangel Hypertrophe Kardiomyopathie - Muskelhypotonie - Laktatazidose