Inborn Errors of Metabolism - SSIEM

1 SSIEM classification of Inborn Errors of Metabolism 2011 Disease group / disease ICD10 OMIM 1. Disorders of amino acid and peptide Metabolism Urea cycle disorders and inherited hyperammonaemias Carbamoylphosphate synthetase I deficiency 237300 N-Acetylglutamate synthetase deficiency 237310 Ornithine transcarbamylase deficiency 311250 S Ornithine carbamoyltransferase deficiency Citrullinaemia type1 215700 S Argininosuccinate synthetase deficiency Argininosuccinic aciduria 207900 S Argininosuccinate lyase deficiency Argininaemia 207800 S Arginase I deficiency HHH syndrome 238970 S Hyperammonaemia-hyperornithinaemia-homoc itrullinuria syndrome S Mitochondrial ornithine transporter (ORNT1) deficiency Citrullinemia Type 2 603859 S Aspartate glutamate carrier deficiency ( SLC25A13) S Citrin deficiency Hyperinsulinemic hypoglycemia and hyperammonemia caused by activating mutations in the GLUD1 gene 138130 Other disorders of the urea cycle 238970 Unspecified hyperammonaemia 238970 Organic acidurias Glutaric aciduria Glutaric aciduria type I 231670 S Glutaryl-CoA dehydrogenase deficiency Glutaric aciduria type III 231690 Propionic aciduria E711 232000 S Propionyl-CoA-Carboxylase deficiency Methylmalonic aciduria E711 251000 Methylmalonyl-CoA mutase deficiency Methylmalonyl-CoA epimerase deficiency 251120 Methylmalonic aciduria.

2 Unspecified Isovaleric aciduria E711 243500 S Isovaleryl-CoA dehydrogenase deficiency Methylcrotonylglycinuria E744 210200 S Methylcrotonyl-CoA carboxylase deficiency Methylglutaconic aciduria E712 250950 Methylglutaconic aciduria type I E712 250950 S 3-Methylglutaconyl-CoA hydratase deficiency Methylglutaconic aciduria type II E723 302060 S Barth syndrome S Taffazin deficiency Methylglutaconic aciduria type III E723 258501 S Costeff syndrome Methylglutaconic aciduria type IV E723 250951 Methylglutaconic aciduria type V 610198 3-Hydroxy-3-methylglutaric aciduria E728 246450 S 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency 2-Methylbutyric aciduria 610006 S 2-Methylbutyryl-CoA dehydrogenase deficiency 2-Methyl-3-hydroxybutyric aciduria 300438 S 17-beta-hydroxysteroid dehydrogenase type 10 deficiency S HSD10 deficiency S 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency Alpha-methylacetoacetic aciduria E712 203750 S Beta-ketothiolase deficiency S Mitochondrial acetoacetyl-CoA thiolase deficiency S 3-Oxothiolase deficiency Isobutyric aciduria 611283 S Isobutyryl-CoA dehydrogenase deficiency Methacrylic aciduria E711 250620 S 3-Hydroxyisobutyryl-CoA deacylase deficiency 3-Hydroxyisobutyric aciduria 236795 S 3-Hydroxyisobutyrate dehydrogenase Methylmalonate semialdehyde dehydrogenase deficiency 603178 L-2-hydroxyglutaric aciduria 236792 S L-2-hydroxyglutarate dehydrogenase defect D-2-hydroxyglutaric aciduria 600721 D-2-hydroxyglutarate dehydrogenase deficiency 609186 Mitochondrial isocitrate dehydrogenase deficiency 147650 Aminoacylase deficiency Aminoacylase 1 deficiency 609924 Aminoacylase 2 deficiency 271900 S Aspartoacylase deficiency S Canavan disease S van Bogaert-Bertrand disease Methylmalonate semialdehyde dehydrogenase deficiency 603178 Other organic acidurias Disorders of the Metabolism of branched-chain amino acids not

3 Classified as organic acidurias Branched-chain amino acid transferase 238340 Maple syrup urine disease E710 248600 S Branched-chain alpha-keto acid dehydrogenase complex deficiency E710 248600 S BCKD deficiency E710 248600 BCKD E1 alpha subunit of deficiency S Maple syrup urine disease type Ia BCKD E1 beta subunit of deficiency S Maple syrup urine disease type Ib Dihydrolipoamide branched chain transacylase deficiency 248610 S Maple syrup urine disease type II 248610 S E2 deficiency 248610 Unspecified BCKD deficiency 248610 Other disorders of branched-chain amino acid Metabolism Disorders of phenylalanine or tyrosine Metabolism Phenylalanine hydroxylase deficiency 261600 S Phenylketonuria S Mild Hyperphenylalaninaemia Tyrosinaemia type II 276600 S Tyrosine aminotransferase deficiency Tyrosinaemia type III 276710 S 4-hydroxyphenylpyruvate dioxygenase deficiency Hawkinsinuria 140350 S 4-Hydroxyphenylpyruvate hydroxylase deficiency Alkaptonuria 203500 S Homogentisate 1,2 - dioxygenase deficiency Tyrosinaemia type I 276700 S Fumarylacetoacetase deficiency Transient tyrosinaemia of the neonate Other disorders of phenylalanine or tyrosine Metabolism Disorders of the Metabolism of sulphur amino acids Methionine adenosyltransferase I/III deficiency E721 250850 S MAT deficiency S MAT I/III deficiency S Hypermethioninemia.

4 Isolated persistent Glycine N-methyltransferase deficiency E728 606664 S GNMT deficiency S-adenosylhomocysteine hydrolase deficiency E721 180960 S AHCY S SAHH S Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Cystathionine beta-synthase deficiency E721 263200 S Homocystinuria S CBS deficiency Cystathionase deficiency E721 219500 S Cystathione gamma - lyase deficiency S Gamma - cystathionase deficiency S Cystathioninuria Isolated sulfite oxidase deficiency E721 272300 S Sulphite oxidase deficiency S Sulphocysteinuria Methionine synthase deficiency-cblG E721 250940 S Methylcobalamin deficiency, cblG type S Homocystinuria-megaloblastic anemia due to defect in cobalamin Metabolism , cblG complementation type Methionine synthase reductase deficiency-cblE E721 236270 S Homocystinuria-megaloblastic anemia due to defect in cobalamin Metabolism , cblE complementation type S Vitamin B12-responsive homocystinuria, cblE type S Methylcobalamin deficiency, cblE type Other genetic defect in methionine cycle or sulfur amino acid Metabolism E721 Unspecified disorder of homocysteine Metabolism E721 Unspecified disorder of methionine Metabolism E721 Secondary non-genetic disorders of methionine cycle and other sulfur amino acids E729 Disorders of histidine, tryptophan or lysine Metabolism Histidinaemia E708 235800 S Histidase deficiency Urocanase deficiency E708 276880 Glutamate formiminotransferase deficiency E728 229100 S Forminotransferase deficiency S Forminoglutamic aciduria S Figlu-uria E728 229100 Tryptophanaemia E708 S Tryptophan-2,3-Dioxygenase deficiency Hyperlysinaemia S Alpha-aminoadipic semialdehyde synthase deficiency 605113 Hyperlysinaemia type I 238700 S Lysine.

5 2-oxoglutarate reductase deficiency Hyperlysinaemia type II 268700 S Saccharopine dehydrogenase deficiency S Saccharopinuria 2-Aminoadipic aciduria 204750 2-Oxoadipic aciduria 245130 Hydroxykynureninuria 236800 S Kynureninase deficiency S Xanthurenic aciduria Hydroxylysinuria 236900 Disorders of serine, glycine or glycerate Metabolism Phosphoglycerate dehydrogenase deficiency E728 606879 Phosphoserine phosphatase deficiency 172480 Phosphoserine aminotransferase deficiency 610992 Nonketotic hyperglycinaemia E725 238300 S Glycine cleavage deficiency P protein deficiency, GLDC gene 238300 T protein deficiency, AMT gene 238310 H protein deficiency, GCSH gene 238330 Sarcosinaemia E725 268900 S Sarcosine dehydrogenase deficiency D-glyceric aciduria 220120 S D-glycerate kinase deficiency Disorders of ornithine or proline Metabolism Ornithine aminotransferase deficiency S Gyrate atrophy of retina and choroid Hyperprolinaemia type I S Proline oxidase deficiency Hyperprolinaemia type II S Pyrroline-5-carboxylate dehydrogenase deficiency S Aldehyde dehydrogenase deficiency Hypoprolinaemia S Pyrroline-5-carboxylate synthase deficiency 138250 Cutis laxa, autosomal recessive, type IIb 179035 S Pyrroline-5-carboxylate reductase deficiency Disorders of amino acid transport Lysinuric protein intolerance E723 222700 S SLC7A7 carrier deficiency Cystinuria E720 220100 Cystinuria-hypotonia syndrome (contiguous gene defect)

6 606407 Hartnup disease E720 234500 Iminoglycinuria 242600 Lowe syndrome E720 309000 Other disorders of amino acid transport Other disorders of amino acid Metabolism Glutamine synthetase deficiency Disorders of the gamma-glutamyl cycle Glutathionuria S Gamma-glutamyl transpeptidase deficiency 231950 Cysteinylglycinase deficiency Oxoprolinuria 260005 S Oxoprolinase deficiency Gamma-glutamylcysteine synthetase deficiency 230450 Glutathione synthetase deficiency 266130 Other disorders of peptide Metabolism Prolidase deficiency 170100 S Iminodipeptiuria Carnosinaemia 212200 Homocarnosinosis E728 236130 Other disorders of amino acid and protein Metabolism 2. Disorders of carbohydrate Metabolism Disorders of galactose Metabolism Classical galactosaemia 230400 S Galactose-1-phosphate uridyltransferase deficiency Galactokinase deficiency 230200 Uridine diphosphate galactose-4-epimerase deficiency 230350 Disorders of fructose Metabolism Essential fructosuria 229800 S Fructokinase deficiency Hereditary fructose intolerance 229600 S Fructose-1-phosphate aldolase deficiency Disorders of pentose Metabolism Essential pentosuria 260800 S L-xylulose reductase deficiency Ribose-5-phosphate isomerase deficiency 608611 Transaldolase deficiency 606003 Disorders of glycerol Metabolism Glycerol kinase deficiency 307030 Complex glycerol kinase deficiency due to contiguous gene deletion 300679 Disorders of glyoxylate Metabolism Primary hyperoxaluria type I 260000 S Alanine-glyoxylate aminotransferase deficiency Primary hyperoxaluria type II 260000 S Hydroxypyruvate reductase deficiency

7 S D-glycerate dehydrogenase deficency Disorders of glucose transport Glucose transporter 1 deficiency (blood-brain barrier) 606777 S GLUT1 deficiency syndrome Glucose transporter 2 deficiency 227810 S Glycogen storage disease type XI S GLUT2 deficiency syndrome S Fanconi-Bickel syndrome 261670 Glucose/galactose malabsorption 606824 S Glucose/galactose cotransporter (SGLT1) deficiency Disorders of gluconeogenesis Fructose-1,6-bisphosphatase deficiency 229700 Pyruvate carboxylase deficiency 266150 Phosphoenolpyruvate carboxykinase deficiency E744 261650 Glycogen storage disorders Glycogen storage disease type 1a 232200 S GSD Ia S von Gierke disease S Glucose-6-phosphatase deficiency Glycogen storage disease type 1b 232220 S GSD Ib S Glucose-6-phosphate transport deficiency Glycogen storage disease type II 232300 S GSD II S Pompe disease S Lysosomal alpha-1,4-glucosidase deficiency Glycogen storage disease type III 232400 S GSD III S Cori disease S Amylo-1,6-glucosidase (debrancher)

8 Deficiency Glycogen storage disease type IV 232500 S GSD IV S Andersen disease S Glycogen branching enzyme deficiency Glycogen storage disease type V 232600 S GSD V S McArdle disease S Muscle phosphorylase deficiency Glycogen storage disease type VI 232700 S GSD VI S Hers disease S Hepatic glycogen phosphorylase deficiency Glycogen storage disease type VII 232800 S GSD VII S Tauri disease S Muscle phosphofructokinase deficiency Glycogen storage disease type IX 306000 S GSD IX S Phosphorylase kinase deficiency 261740 Hepatic phosphorylase kinase deficiency 306000 S GSD IXa 306000 Hepatic and muscle phosphorylase kinase deficiency 261750 S GSD Ixb 261750 Muscle phosphorylase kinase deficiency 300559 S GSD IXd 300559 Cardiac muscle phosphorylase kinase deficiency 261740 Glycogen storage disease type X S GSD X S Muscle phosphoglycerate mutase deficiency 261670 Glycogen storage disease type XI 227810 S GSD XI S Fanconi-Bickel syndrome 261670 S GLUT2 deficiency syndrome 261670 Glycogen storage disease type XIV S Muscle phosphoglucomutase 1 deficiency 612934 S GSD XIV Glycogen storage disease type XV S Glycogenin deficiency 612934 S GSD XIV Glycogen storage disease type 0a 240600 S GSD 0a S Liver glycogen synthase deficiency Glycogen storage disease type 0b 611556 S GSD 0b S Muscle glycogen synthase deficiency Other glycogen storage disease Muscle LDH deficiency 612933 Aldolase A deficiency 611881 Beta-enolase deficiency 612932 Muscle phosphoglycerate kinase deficiency 300653 Unspecified glycogen storage disease Other carbohydrate disorders Lactose intolerance 223000 S lactase deficiency Disaccharide intolerance 1 222900 S Sucrase-isomaltase deficiency Trehalase deficiency 612119 3.

9 Disorders of fatty acid and ketone body Metabolism Disorders of lipolysis Disorders of carnitine transport and the carnitine cycle Carnitine transporter deficiency E713 212140 S Systemic primary carnitine deficiency S Carnitine uptake deficiency Carnitine palmitoyltransferase I (CPTI) deficiency E713 255120 Carnitine acylcarnitine translocase deficiency E713 212138 Carnitine palmitoyltransferase II (CPTII) deficiency E713 255110 Disorders of mitochondrial fatty acid oxidation Very long - chain acyl CoA dehydrogenase deficiency E713 201475 S VLCAD deficiency Mitochondrial trifunctional protein deficiency E713 143450 Isolated deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase E713 143450 S LCHAD deficiency Isolated deficiency of long-chain 3-ketoacyl CoA thiolase E713 143450 Medium - chain acyl CoA dehydrogenase deficiency E713 201450 S MCAD deficiency Short - chain acyl CoA dehydrogenase deficiency E713 201470 S SCAD deficiency 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency E713 231530 S HADH deficiency S Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency S SCHAD deficiency Multiple acyl-CoA dehydrogenase deficiency E713 231680 S Glutaric aciduria type II E713 231680 Electron transfer flavoprotein deficiency, alpha chain E713 231680 Electron transfer flavoprotein deficiency.

10 Beta chain E713 130410 ETF-ubiquinone oxidoreductase deficiency E713 231675 S ETF-QO deficiency S Electron transfer flavoprotein dehydrogenase deficiency Disorders of ketone body Metabolism 3-Hydroxy-3-Methylglutaryl-CoA synthase deficieny 600234 Succinyl-CoA:3-Oxoacid-CoA transferase (SCOT) deficiency E798 245050 Cytosolic acetoacetyl-CoA thiolase deficiency E712 100678 Other disorders of fatty acid and ketone body Metabolism Long - chain acyl CoA dehydrogenase deficiency E713 201460 Malonyl CoA decarboxylase deficiency E798 248360 S Malonic aciduria 4. Disorders of energy Metabolism Disorders of pyruvate Metabolism Pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase E1 subunit deficiency 312170 Pyruvate dehydrogenase E1 subunit deficiency 179060 D