A. disorders of amino acid metabolism classical phenylketonuria and hyperphenylalaninemia

Transcription

1 1 OMIM # FULL NAME A. disorders of amino acid metabolism classical phenylketonuria and hyperphenylalaninemia phenylketonuria due to PTPS deficiency phenylketonuria due to DHPR deficiency phenylketonuria due to PCD deficiency DOPA-responsive dystonia (TH, SPR, GCH1) leucinose, maple syrup urine disease (MSUD) tyrosinemia type tyrosinemia type tyrosinemia type alkaptonuria homocystinuria, B6 responsive and non responsive homocystinuria due to MTHFR deficiency homocystinuria-megaloblastic anemia Cbl E & G type methionine S-adenosyltransferase deficiency glycine N-methyltransferase deficiency S-adenosylhomocystine hydrolase deficiency hyperammonemia due to CPS deficiency hyperammonemia due to OTC deficiency citrullinemia type I citrullinemia type II argininosuccinic aciduria (ASL deficiency) argininemia (arginase deficiency) hyperammonemia due to NAGS deficiency hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) lysinuric protein intolerance gyrate atrophy, B6 responsive or non responsive hyperlysinemia (alpha-aminoadipic semialdehyde synthase deficiency) non ketotic hyperglycinaemia hartnup disorder Disorders of serine metabolism Disorders of proline/hydroxyproline/pyrroline carboxylate metabolism hypotonia-cystinuria Lowe oculocerebral syndrome B. organic acidemias methylmalonic aciduria (CblA,B,C,D,F)

2 methylmalonic aciduria mutase deficiency type transcobalamin 2 deficiency propionic acidemia isovaleric aciduria methylcrotonylglycinuria methylglutaconic aciduria type 1, 2, 3, 4, HMG CoA lyase deficiency glutaric aciduria type glutaric aciduria type 2 (MADD) L-2 and D-2-OH glutaric aciduria hydroxybutyric aciduria (SSADH deficiency) isobutyryl CoA dehydrogenase deficiency (ACAD8) short/branched chain acylcoa dehydrogenase deficiency (SBCADD) malonic aciduria C. biotin-responsive disorders holocarboxylase synthase deficiency biotinidase deficiency biotin responsive basal ganglia disease D. disorders of carbohydrate metabolism and glycogen storage diseases sucrase isomaltase deficiency congenital glucose/galactose malabsorption hereditary fructose intolerance galactosemia (uridylyltransferase deficiency) galactosemia (epimerase deficiency) galactosemia (galactokinase deficiency) transaldolase deficiency pyruvate carboxylase deficiency phosphoenolpyruvate carboxykinase (PEPCK) deficiency fructose 1,6-bisphosphatase deficiency glycogenose 0 (glycogen synthase deficiency) glycogenose Ia and Ib (G6Pase) glycogenose 3 Cori glycogenose 4 Andersen glycogenose 5 Mc Ardle glycogenose 6 Hers glycogenose 7 Tarui glycogenose IX phosphorylase kinase glycogenosis X (phosphoglycerate mutase deficiency)

3 phosphoglycerate kinase deficiency lactate dehydrogenase deficiency (type XI) aldolase A deficiency (type XII) β-enolase deficiency (type XIII) glucose transporter defect De Vivo syndrome (GLUT-1) fanconi-bickel syndrome (GLUT-2) E. hyperinsulinism hyperinsulinism-hyperammonemia syndrome (HiHa) and familial hyperinsulinemic hypoglycemia, types 1-7 F. disorders of mitochondrial energy metabolism pyruvate dehydrogenase deficiency mitochondrial complex I deficiency mitochondrial complex II deficiency mitochondrial complex III deficiency mitochondrial complex IV deficiency mitochondrial complex V deficiency and mitochondrial DNA mutation/deletion/elongation and nuclear DNA mutation affecting mitochondrial structure and/or function and mitochondrial DNA depletion syndrome clinical syndrome associated with mitochondrial disorder and (report+board advise) and krebs cycle enzyme deficiencies coq10 synthesis defects G. mitochondrial beta oxidation defects camitine transporter deficiency camitine palmitoyltransferase 1 deficiency camitine translocase camitine palmitoyltransferase 2 deficiency short chain acyl coa dehydrogenase deficiency (SCADD) short chain 3 oh acyl coa dehydrogenase deficiency (SCHADD) medium chain acyl coa dehydrogenase deficiency (MCADD) long chain acyl coa dehydrogenase deficiency (LCADD) long chain 3 oh acyl coa dehydrogenase deficiency (LCHADD) very long chain acyl coa dehydrogenase deficiency (VLCADD) mitochondrial trifunctional protein

4 4 H. disorders of ketone body metabolism hydroxy-3-methylglutaryl-coA synthase deficiency hydroxy-3methylglutaryl-coA lyase deficiency succinyl-coa 3-oxoacid coa transferase deficiency (scot) β-ketothiolase deficiency I. disorders of sterol, bile acid, lipid and lipoprotein metabolism smith-lemli-opitz syndrome mevalonic aciduria β-hydroxy δ5 c27 hydroxysteroid dehydrogenase deficiency α methylacyl-coa racemase deficiency δ4-3-oxosteroid 5β reductase deficiency oxysterol 7α hydroxylase deficiency cerebrotendinous xanthomatosis familial lipoprotein lipase deficiency & apo c2 deficiency Abetalipoproteinemia Tangier disease and Inborn hypertriglyceridemia and lipodystrophy syndromes LCAT-deficiency (Norum disease and Fish-eye disease) Hypo-alphalipoproteinemia LPIN1 lipid myopathy Wolman & cholesteryl ester storage disease J. peroxisomal disorders zellweger spectrum (peroxisome biogenesis defects) acyl-coa oxidase deficiency D-bifunctional protein deficiency methyl-CoA racemase deficiency X-linked adrenoleukodystrophy Rhizomelic chondrodysplasia punctata Refsum disease Refsum disease infantile form K. lysosomal disorders glycogen storage disease type 2 (Pompe) glycogen storage disease type 2b (Danon and PRK- AG2) Gaucher disease, type I, II and III Fabry disease Hurler-Scheie disease (MPS I)

5 Hunter disease (MPS II) Sanfilippo A; B; C; D (MPS III) MPS types (IV, V, VI, VII, VIII) Niemann-Pick type A and B Niemann-Pick type C and GM1 and GM2 gangliosidosis Metachromatic Leukodystrophy Krabbe leukodystrophy Mannosidosis Sialidosis and galactosialidosis I-cell disease and mucolipidosis II/III Free sialic storage diseases Mucolipidosis IV Fucosidosis multiple sulfatase deficiency Farber lipogranulomatosis and ceroid lipofuscinosis type 1-10 L. disorders of purine and pyrimidine metabolism phosphoribosyl pyrophosphate synthetase superactivity adenylosuccinate lyase deficiency xanthinuria Lesch-Nyhan syndrome M. disorders of creatine metabolism guanidinoacetate methyltransferase deficiency (GAMT) arginine:glycine amidinotransferase deficiency (AGAT) creatine transporter deficiency N. disorders of neurotransmitter and small peptide metabolism and γ-glutamyl transpeptidase deficiency and disorders of glutathion metabolism folate transporter defects trimethylaminuria & dimethylglycine dehydrogenase deficiency aromatic amino-acid decarboxylase (AADC) gaba transaminase deficiency monoamine oxidase deficiency dopamine beta-hydroxylase deficiency pyridoxine dependent seizures pyridoxamine 5-phosphate oxidase deficiency (pyri-

6 6 doxal-p responsive seizures) molybdenum cofactor deficiency, sulfite oxidase deficiency acetylaspartic aciduria (Canavan s disease) O. Congenital defects of glycosylation (CDG) and Congenital disorders of N- and/or O-glycosylation P. porphyrias aminolevulinic acid synthase deficiency aminolevulinic acid dehydratase porphyria acute intermittent porphyria hereditary coproporphyria variegate prophyria congenital erythropoietic porphyria erythropoietic protoporphyria Q. disorders of copper metabolism menkes disease Wilson disease R. progressive neurodegenerative diseases Alexander disease (GFAP) Infantile neuroaxonal dystrophy (PLA2G6) Vanishing white matter disease Pelizaeus-Merzbacher disease S. connective tissue disorders and osteogenesis imperfecta