SE-ATLAS

Other metabolic disease Disorder of sialic acid metabolism Disorder of purine or pyrimidine metabolism Sterol metabolism disorder Ornithine transcarbamylase deficiency Sphingolipidosis Hypotonia-failure to thrive-microcephaly syndrome Disorder of lysine and hydroxylysine metabolism Disorder of phospholipids, sphingolipids and fatty acids biosynthesis Lysosomal glycogen storage disease Smith-Lemli-Opitz syndrome Congenital disorder of glycosylation Niemann-Pick disease type E Disorder of tryptophan metabolism Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Disorder of glutamine metabolism Genetic recurrent myoglobinuria Autosomal dominant myoglobinuria Disorder of lysosomal-related organelles Disorder of protein N-glycosylation Disorder of beta and omega amino acid metabolism Glutaryl-CoA dehydrogenase deficiency Hemolytic anemia due to diphosphoglycerate mutase deficiency Lysosomal disease Phenylketonuria Propionic acidemia Rare inborn errors of metabolism Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Peroxisomal disease Medium chain acyl-CoA dehydrogenase deficiency Mitochondrial disease Citrullinemia Fabry disease Disorder of carbohydrate metabolism Disorder of multiple glycosylation Disorder of urea cycle metabolism and ammonia detoxification Alpha-1-antitrypsin deficiency Disorder of amino acid absorption and transport Disorder of neurotransmitter metabolism and transport Organic aciduria Disorder of porphyrin and heme metabolism Disorder of methionine cycle and sulfur amino acid metabolism Creatine deficiency syndrome Disorder of gamma-aminobutyric acid metabolism Rare dyslipidemia Lysosomal acid phosphatase deficiency Disorder of fatty acid oxidation and ketone body metabolism Gluconeogenesis disorder Disorder of glycerol metabolism Disorder of glycolysis Disorder of lipid metabolism Disorder of metabolite absorption and transport Disorder of histidine metabolism Disorder of glyoxylate metabolism Krabbe disease Disorder of pentose phosphate metabolism Disorder of asparagine metabolism Disorder of pterin metabolism Disorder of ornithine or proline metabolism Galactosemia Disorder of carbohydrate absorption and transport Neuronal ceroid lipofuscinosis Disorder of peptide metabolism Pycnodysostosis Rare hereditary hemochromatosis Disorder of galactose metabolism Disorder of phenylalanin or tyrosine metabolism Gaucher disease Glycoproteinosis Disorder of pyridoxine metabolism Autosomal recessive dopa-responsive dystonia Disorder of serine or glycine metabolism Wilson disease Disorder of fructose metabolism Disorder of branched-chain amino acid metabolism Disorder of the gamma-glutamyl cycle Disorder of amino acid and other organic acid metabolism Glycogen storage disease Zellweger syndrome Disorder of energy metabolism Chronic visceral acid sphingomyelinase deficiency Infantile neurovisceral acid sphingomyelinase deficiency Disorder of lipid absorption and transport Lipid storage disease Disorder of lysosomal amino acid transport Niemann-Pick disease type C Lesch-Nyhan syndrome Pyruvate metabolism disorder Brachytelephalangic chondrodysplasia punctata Mucolipidosis Disorder of biogenic amine metabolism and transport Mucopolysaccharidosis Disorder of protein O-glycosylation Tricarboxylic acid cycle disorder Oligosaccharidosis Guanidinoacetate methyltransferase deficiency Metabolic disease involving other neurotransmitter deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency