SE-ATLAS

Trouble du métabolisme des hydrates de carbone Alcaptonurie Trouble du métabolisme de la porphyrine et de l'hème Trouble du métabolisme des lipides Anomalie de transport et d'absorption des métabolites Trouble du métabolisme des acides aminés et autres acides organiques Trouble du métabolisme energétique Autre maladie métabolique Encéphalopathie épileptique néonatale par déficit en glutaminase Acidurie argininosuccinique Acrodermatite entéropathique Maladie de surcharge lysosomale en glycogène Déficit en carnitine palmitoyltransférase 1A Dyslipidémie syndromique rare Déficit en phosphatase acide lysosomale Trouble de la gluconéogenèse Glycogénose par déficit en phosphofructokinase musculaire Dyslipidémie rare Aminoacidurie hyperdibasique type 1 Céroïde-lipofuscinose neuronale juvénile associée à ATP13A2 Anomalie de la biosynthèse du stérol Tyrosinémie transitoire du nouveau-né Glycogénose par déficit en maltase acide Céroïde-lipofuscinose neuronale infantile Coproporphyrie héréditaire Mucolipidose Dysplasie squelettique létale type Greenberg Oligosaccharidose Glycogénose par déficit en enzyme branchante Glycogénose par déficit en phosphorylase kinase Céroïde-lipofuscinose neuronale de l'adulte Céroïde-lipofuscinose neuronale juvénile Hyperprolinémie type I Anomalie des organelles type lysosomes Maladie lysosomale Erreurs innées du métabolisme rares Maladie péroxysomale Glycoprotéinose Trouble du métabolisme du tryptophane Syndrome d'hyperinsulinisme et hyperammoniémie Trouble de la synthèse des phospholipides, sphingolipides et acides gras Trouble du métabolisme de la lysine et de l'hydroxylysine Saccharopinurie Trouble de métabolisme de la glutamine Sarcosinémie Trouble du métabolisme de l'acide sialique Trouble du métabolisme de l'ornithine Trouble du métabolisme de la proline Argininémie Hyperinsulinisme induit par l'effort Histidinémie Histidinurie rénale Acidurie organique Homocarnosinose Trouble du métabolisme de la phénylalanine Hyperaminoacidurie dicarboxylique Déficit en carbamoyl-phosphate synthétase 1 Trouble du métabolisme de la tyrosine Hyperlysinémie CADDS Syndrome de Haim-Munk Hydroxykynuréninurie Acidurie 2-aminoadipique 2-oxoadipique Syndrome de convulsions-déficience intellectuelle par hydroxylysinurie Trouble du métabolisme du cycle de l'urée et de la détoxification de l'ammoniac Trouble de l'absorption et du transport des acides aminés Anomalie de la synthèse des acides biliaires Trouble du métabolisme du cycle de la méthionine et des acides aminés sulfurés Déficit en hème oxygénase-1 Trouble de l'oxydation des acides gras et du métabolisme des corps cétoniques Trouble du métabolisme du glycérol Trouble du métabolisme de l'histidine Maladie de Farber Trouble de la cétolyse 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 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 Sphingolipidosis Essential fructosuria Spastic ataxia-dysarthria due to glutaminase deficiency Fatal infantile lactic acidosis with methylmalonic aciduria Succinic semialdehyde dehydrogenase deficiency Fumaric aciduria Oxoglutaric aciduria Glutathione synthetase deficiency Rotor syndrome Fanconi-Bickel syndrome Sialidosis 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 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 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 Rare hyperlipidemia Progressive familial intrahepatic cholestasis Hypertryptophanemia Disorder of beta and omega amino acid metabolism Rare major hypertriglyceridemia Rare hypolipidemia Hyperalphalipoproteinemia Citrullinemia Crigler-Najjar syndrome Disorder of asparagine metabolism Urocanic aciduria Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Cystinuria Neuronal ceroid lipofuscinosis Disorder of neutral amino acid transport 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 Severe combined immunodeficiency due to adenosine deaminase 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 Disorder of pentose phosphate metabolism 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 Sterol metabolism disorder Disorders of pentose/polyol metabolism 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 Glycine encephalopathy Acid sphingomyelinase deficiency Dysbetalipoproteinemia Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Primary hyperoxaluria Maple syrup urine disease Metachromatic leukodystrophy Oculocerebrorenal syndrome of Lowe Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 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 Papillon-Lefèvre syndrome Hemolytic anemia due to glucophosphate isomerase deficiency Phenylketonuria Porphyria 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 Gangliosidosis Acatalasemia Congenital erythropoietic porphyria Acute intermittent porphyria Autosomal erythropoietic protoporphyria Hypoalphalipoproteinemia Hypobetalipoproteinemia Isolated complex III deficiency Lipoic acid biosynthesis defect GRACILE syndrome Congenital glucokinase-related hyperinsulinism Hereditary fructose intolerance Lysinuric protein intolerance Disorder of melanin metabolism Hyaluronidase deficiency 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 3-phosphoserine phosphatase deficiency, infantile/juvenile form Leigh syndrome Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Glycogen storage disease due to muscle beta-enolase deficiency 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 Uroporphyrie érythropoïétique associée à une tumeur maligne myéloïde Déficit en succinyl-CoA:3-oxoacide CoA transférase Maladie de surcharge en acide sialique libre 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 Syndrome d'hypotonie-cystinurie Anomalie de transport membranaire mitochondrial Syndrome de microdélétion 2p21 Anomalie mitochondriale non spécifiée Acidémie glutarique type 3 Syndrome de De Barsy Déplétion de l'ADN mitochondrial, forme myopathique Syndrome d'épilepsie-déficience intellectuelle type finnois 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 Porphyrie hépatique aiguë Maladie de Sandhoff adulte Syndrome d'hypotonie-cystinurie type 1 Porphyrie hépatoérythropoïétique Syndrome d'hypotonie-cystinurie atypique Glycogénose par déficit en phosphoglycérate mutase Porphyrie cutanée tardive 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 Hyperammoniémie par déficit en N-acétylglutamate synthase Syndrome d'ataxie cérébelleuse autosomique récessive-signes pyramidaux-nystagmus-apraxie oculomotrice Porphyrie hépatique chronique Déficit en pyruvate carboxylase