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 Hermansky-Pudlak syndrome due to BLOC-1 deficiency 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 Neonatal glycine encephalopathy 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 Primary hyperoxaluria type 1 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Primary hyperoxaluria type 3 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 Primary hyperoxaluria type 2 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 Hermansky-Pudlak syndrome Disorder of mineral absorption and transport Multiple sulfatase deficiency Infantile Krabbe disease Rare hypercholesterolemia Dimethylglycine dehydrogenase deficiency Ornithine transcarbamylase deficiency Disorder of glyoxylate metabolism Refsum disease 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 Atypical Gaucher disease due to saposin C deficiency Essential fructosuria Spastic ataxia-dysarthria due to glutaminase deficiency Metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy, late infantile form Fatal infantile lactic acidosis with methylmalonic aciduria Metachromatic leukodystrophy, adult form Succinic semialdehyde dehydrogenase deficiency Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 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 Infantile glycine encephalopathy Alpha-N-acetylgalactosaminidase deficiency Atypical glycine encephalopathy Hartnup disease Hawkinsinuria Familial chylomicronemia syndrome Iminoglycinuria Hermansky-Pudlak syndrome due to BLOC-3 deficiency Hermansky-Pudlak syndrome type 9 Hermansky-Pudlak syndrome due to BLOC-2 deficiency 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 Hermansky-Pudlak syndrome type 8 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 Fetal Gaucher disease 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 Glycogen storage disease due to acid maltase deficiency, infantile onset 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 Hermansky-Pudlak syndrome due to AP-3 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 GM1 gangliosidosis type 1 Classic phenylketonuria GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome Congenital erythropoietic porphyria Cystinuria type B Acute intermittent porphyria Cystinuria type A 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 Gaucher disease type 1 Gaucher disease type 2 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 Gaucher disease type 3 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 Syndrome de déficience intellectuelle liée à l'X-spasticité des membres-dystrophie de la rétine-diabète insipide Porphyrie par déficit en ALA déshydratase Trouble du métabolisme des ptérines Mucolipidose type III Mucolipidose type IV Anomalie de synthèse des catécholamines Mucopolysaccharidose type 2 Mucopolysaccharidose type 4 Mucopolysaccharidose type 7 Glycogénose par déficit en maltase acide à début tardif Trouble du métabolisme du cuivre Anomalie du métabolisme et du transport du zinc Anomalie du transport du magnésium Anomalie du transport du manganèse Dysgénésie cérébrale congénitale par déficit en glutamine synthétase Porphyrie variegata Maladie de Krabbe de l'adulte Syndrome NARP Maladie de Niemann-Pick type C Déficit en dihydropyrimidine déshydrogénase Anomalie du métabolisme et du transport de la thiamine Ataxie cérébelleuse congénitale autosomique récessive par déficit en MGLUR1 Myopathie à corps de polyglucosane type 2 Maladie de Charcot-Marie-Tooth liée à l'X type 5 Syndrome d'Alpers-Huttenlocher Hypomagnésémie primaire autosomique dominante avec hypocalciurie Déficit en purine nucléoside phosphorylase Déficit en glycérol kinase Déficit en phosphosérine aminotransférase, forme infantile/juvénile Déficit en bêta-uréidopropionase Glycogénose par déficit en LAMP-2 Pentosurie Anomalie du métabolisme et du transport des autres vitamines et cofacteurs Anomalie du transport et du métabolisme du fer Déficit en hypoxanthine-guanine phosphoryl transférase Maladie de Krabbe infantile tardive/juvénile Syndrome de Neu-Laxova Déficit en 3-phosphoglycerate déshydrogénase Myopathie à corps de polyglucosane type 1 Hyperzincémie et hypercalprotectinémie Syndrome d'arthrogrypose-insuffisance rénale-cholestase Ophtalmoplégie externe progressive due à une mutation de l'ADN mitochondrial Trouble neurologique létal infantile avec cataracte et atteinte cardiaque associé à ITPA Hypomagnésémie isolée autosomique dominante type Glaudemans Syndrome de Pearson Glycogénose par déficit en phosphoglycérate kinase 1 Hypomagnésémie primaire d'origine génétique Citrullinémie type I Encéphalomyopathie mitochondriale sévère liée à l'X Déficit en pyruvate déshydrogénase Maladie de Refsum infantile Déficit en citrine Hyperphénylalaninémie modérée Déficit en 5-oxoprolinase Déficit en gamma-glutamyl transpeptidase Déficit en glutamate-cystéine ligase Sialidose type 1 Défaut de synthèse des acides biliaires avec cholestase et malabsorption Protoporphyrie érythropoïétique liée à l'X Cétoacidose par déficit en transporteur 1 de monocarboxylate Uroporphyrie érythropoïétique associée à une tumeur maligne myéloïde Déficit en succinyl-CoA:3-oxoacide CoA transférase Maladie de surcharge en acide sialique libre Syndrome d'hypomagnésémie primaire-crises généralisées-déficience intellectuelle-obésité Anémie hémolytique due à une surproduction d'adénosine désaminase Sialidose type 2 Déficit en coenzyme Q10 Acidose lactique congénitale type Saguenay-Lac-Saint-Jean Syndrome de Leigh avec cardiomyopathie Hypomagnésémie primaire avec déficience intellectuelle associée à EGF Syndrome d'hypotonie-cystinurie Anomalie de transport membranaire mitochondrial Syndrome de microdélétion 2p21 Maladie des urines sirop d'érable, forme classique Anomalie mitochondriale non spécifiée Déficit en l-arginine:glycine amidinotransférase Acidémie glutarique type 3 Maladie des urines sirop d'érable, forme intermédiaire Maladie des urines sirop d'érable, forme intermittente Syndrome de De Barsy Déplétion de l'ADN mitochondrial, forme myopathique Syndrome d'épilepsie-déficience intellectuelle type finnois Maladie des urines sirop d'érable, forme sensible à la thiamine Hyper-bêta-alaninémie Déficit de la voie de biosynthèse de la sérine, forme infantile/juvénile Gangliosidose à GM2 Maladie de Sandhoff infantile Ataxie cérébelleuse congénitale autosomique récessive par déficit en GRID2 Acidurie D-glycérique Maladie de Sandhoff juvénile Maladie de Sandhoff adulte Porphyrie hépatoérythropoïétique Syndrome d'hypotonie-cystinurie atypique Déficit en adénosine phosphoribosyltransférase Glycogénose par déficit en phosphoglycérate mutase Porphyrie cutanée tardive Dihydropyrimidinurie Syndrome d'hypomagnésémie primaire-épilepsie réfractaire-déficience intellectuelle Nephropathie hyperuricémique juvénile familiale type 1 Anomalie du métabolisme et du transport des folates Hypercholestérolémie par déficit en cholesterol 7alpha-hydroxylase Syndrome de cardiomyopathie-hypotonie-acidose lactique