|  Enzymes A-Z A B C D E F G H I J K L M N O P Q R S T U V W X Y Z Diseases
(R)-3-amino-2-methylpropionate--pyruvate transaminase: Hyper-beta-aminoisobutyricaciduria; MIN:210100.
1,4-alpha-glucan branching enzyme: Glycogen storage disease IV; MIN:232500.
1-pyrroline-5-carboxylate dehydrogenase: Hyperprolinemia II; MIN:239510.
11-beta-hydroxysteroid dehydrogenase: Apparent mineralocorticoid excess (AME), type 1; MIN:218030.
2-acetyl-1-alkylglycerophosphocholine esterase: Platelet-activating factor acetylhydrolase deficiency; MIN:601690.
3',5'-cyclic-nucleotide phosphodiesterase: Congenital stationary night blindness, CSNB3; MIN:163500.
3-beta-hydroxy-delta(5)-steroid dehydrogenase: Adrenal hyperplasia II; MIN:201810.
3-hydroxyacyl-CoA dehydrogenase: Peroxisomal bifunctional enzyme deficiency; MIN:261515.
3-hydroxyisobutyrate dehydrogenase: 3-hydroxyisobutyricaciduria; MIN:236795.
3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring): Maple syrup urine disease; MIN:248600.
3-oxo-5-alpha-steroid 4-dehydrogenase: Male pseudohermaphroditism (pseudovaginal perineoscrotal); MIN:264600.
3-oxo-5-beta-steroid 4-dehydrogenase: Neonatal cholestatic hepatitis; MIN:235555.
3-oxoacid CoA-transferase: Infantile ketoacidosis; MIN:245050.
4-alpha-glucanotransferase: Glycogen storage disease III; MIN:232400.
4-aminobutyrate transaminase: GABA-transaminase deficiency; MIN:137150.
4-hydroxyphenylpyruvate dioxygenase: Tyrosinemia, type III; MIN:276710.
4-oxoproline reductase: Hydroxyprolinemia; MIN:237000.
4a-hydroxytetrahydrobiopterin dehydratase: Hyperphenylalaninemia with primapterinuria; MIN:264070.
5-aminolevulinic acid synthase: X-linked sideroblastic anemia (XLSA); MIN:301300.
6,7-dihydropteridine reductase: Phenylketonuria II; MIN:261630.
6-phosphofructokinase: Glycogen storage disease VII; MIN:232800.
6-pyruvoyltetrahydropterin synthase: Hyperphenylalaninemia (HPA); MIN:261640.
7-dehydrocholesterol reductase: Smith-Lemli-Opitz syndrome; MIN:270400.
AMP deaminase: Myopathy due to AMPD deficiency; MIN:102770.
Acetyl-CoA C-acetyltransferase: Alpha-methylacetoaceticaciduria; MIN:203750.
Acid phosphatase: Acid phosphatase deficiency; MIN:200950.
Acyl-CoA dehydrogenase: Medium-chain acyl-CoA dehydrogenase deficiency; MIN:201450.
Acyl-CoA oxidase: Pseudoneonatal adrenoleukodystrophy; MIN:264470.
Adenine phosphoribosyltransferase: Urolithiasis, 2,8-dihydroxyadenine; MIN:102600.
Adenosine deaminase: Severe combined immunodeficiency (SCID); MIN:102700.
Adenosylhomocysteinase: Hypermethioninemia; MIN:180960.
Adenylate kinase: Hemolytic anemia due to deficiency of adenylate kinase; MIN:103000.
Adenylosuccinate lyase: Succinylpurinemic autism; MIN:103050.
Adenylylsulfate kinase: Spondyloepimetaphyseal dysplasia Pakistani type (SEMD); MIN:603005.
Alanine--glyoxylate transaminase: Oxalosis I (glycolicaciduria); MIN:259900.
Aldehyde dehydrogenase (NAD+): Acute alcohol intolerance; MIN:100650.
Alkaline phosphatase: Hypophosphatasia, adult; MIN:146300.
Alkylglycerone-phosphate synthase: Alkylglycerone-phosphate synthase deficiency; MIN:600121.
Alpha-L-fucosidase: Fucosidosis; MIN:230000.
Alpha-N-acetylgalactosaminidase: Schindler disease; MIN:104170.
Alpha-N-acetylglucosaminidase: Mucopolysaccharidosis IIIB; MIN:252920.
Alpha-galactosidase: Diffuse angiokeratoma (Fabry disease); MIN:301500.
Alpha-glucosidase: Glycogen storage disease II; MIN:232300.
Alpha-mannosidase: Mannosidosis; MIN:248500.
Alpha-methylacyl-CoA racemase: Alpha-methylacyl-CoA racemase deficiency; MIN:604489.
Amine oxidase (flavin-containing): Brunner Syndrome; MIN:309850.
Aminomethyltransferase: Nonketotic hyperglycinemia (NKH); MIN:605899.
Amylo-alpha-1,6-glucosidase: Glycogen storage disease III; MIN:232400.
Arginase: Argininemia; MIN:207800.
Argininosuccinate lyase: Argininosuccinicaciduria; MIN:207900.
Argininosuccinate synthase: Citrullinemia; MIN:215700.
Aspartoacylase: Canavan disease; MIN:271900.
Beta-N-acetylhexosaminidase: Sandhoff disease (GM2-gangliosidosis, variant 0); MIN:268800.
Beta-galactosidase: Gangliosidosis, generalized GM1, type I; MIN:230500.
Beta-glucuronidase: Mucopolysaccharidosis VII; MIN:253220.
Beta-mannosidase: Beta-mannosidosis (MANB1); MIN:248510.
Biotin--[acetyl-CoA-carboxylase] ligase: Multiple carboxylase deficiency, neonatal; MIN:253270.
Biotin--[methylcrotonoyl-CoA-carboxylase] ligase: Multiple carboxylase deficiency, neonatal; MIN:253270.
Biotin--[methylmalonyl-CoA-carboxytransferase] ligase: Multiple carboxylase deficiency, neonatal; MIN:253270.
Biotin--[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase: Multiple carboxylase deficiency, neonatal; MIN:253270.
Biotinidase: Multiple carboxylase deficiency, late onset; MIN:253260.
Bisphosphoglycerate mutase: Hemolytic anemia due to diphosphoglycerate mutase deficiency; MIN:222800.
Bisphosphoglycerate phosphatase: Myopathy due to phosphoglycerate mutase deficiency; MIN:261670.
Butyryl-CoA dehydrogenase: Short-chain acyl-CoA dehydrogenase deficiency; MIN:201470.
Calcidiol 1-monooxygenase: Vitamin-D-dependent rickets type I; MIN:264700.
Calcium-transporting ATPase: Darier disease; MIN:124200.
Carbamoyl-phosphate synthase (ammonia): Carbomoylphosphate synthetase (CPS) deficiency; MIN:237300.
Carbonate dehydratase: Osteopetrosis-renal tubular acidosis syndrome; MIN:259730.
Carboxypeptidase C: Galactosialidosis; MIN:256540.
Carnitine O-palmitoyltransferase: Lipid myopathy due to deficiency of CPT I; MIN:255120.
Catalase: Acatalasia; MIN:115500.
Cathepsin K: Pyknodysostosis, PKND; MIN:265800.
Ceramidase: Farber lipogranulomatosis; MIN:228000.
Cerebroside-sulfatase: Metachromatic leukodystrophy; MIN:250100.
Channel-conductance-controlling ATPase: Cystic fibrosis; MIN:219700.
Cholestenol delta-isomerase: X-linked dominant Conradi-Hunermann-Happle syndrome (CDPX2); MIN:302960.
Choline O-acetyltransferase: Familial infantile myasthenia gravis, FIMG2; MIN:254210.
Cholinesterase: Drug induced (postanesthetic) apnea; MIN:177400.
Classical-complement pathway C3/C5 convertase: Complement component C2 deficiency; MIN:217000.
Coagulation factor IXa: Hemophilia B; MIN:306900.
Coagulation factor VIIa: Factor VII deficiency; MIN:227500.
Coagulation factor XIIa: Factor XII deficiency; MIN:234000.
Coagulation factor XIa: Factor XI deficiency; MIN:264900.
Coagulation factor Xa: Factor X deficiency; MIN:227600.
Cob(I)yrinic acid a,c-diamide adenosyltransferase: Methylmalonicaciduria, cblB complementation type; MIN:251110.
Complement component C1r: Complement component C1r deficiency; MIN:216950.
Complement component C1s: Complement component C1s deficiency; MIN:120580.
Copper-exporting ATPase: Menkes syndrome; MIN:309400.
Coproporphyrinogen oxidase: Coproporphyria; MIN:121300.
Corticosterone 18-monooxygenase: Aldosterone deficiency I; MIN:203400.
Cystathionine beta-synthase: Homocystinuria I (classic form); MIN:236200.
Cystathionine gamma-lyase: Cystathioninuria; MIN:219500.
Cytidine deaminase: Autosomal recessive hyper-IgM immunodeficiency (HIGM2); MIN:605258.
Cytochrome-b5 reductase: Methemoglobinemia enzymopathic forms I, II, III; MIN:250800.
Cytochrome-c oxidase: Cytochrome-c-oxidase deficiency; MIN:220110.
DNA ligase (ATP): LIG4 syndrome; MIN:606593.
DNA topoisomerase (ATP-hydrolyzing): Ataxia-telangiectasia; MIN:208900.
DNA-directed DNA polymerase: PEO with mitochondrial DNA deletions; MIN:157640.
Dihydrolipoyl dehydrogenanse: Congenital infantile lactic acidosis; MIN:246900.
Dihydrolipoyllysine-residue acetyltransferase: Primary biliary cirrhosis (PBC); MIN:109720.
Dihydrolipoyllysine-residue succinyltransferase: Maple syrup urine disease type II; MIN:248610.
Dihydropyrimidinase: Dihydropyrimidinase deficiency; MIN:222748.
Dihydropyrimidine dehydrogenase (NADP+): Pyrimidinemia; MIN:274270.
Dimethylaniline monooxygenase (N-oxide forming): Trimethylaminuria; MIN:602079.
Dimethylglycine dehydrogenase: Dimethylglycine dehydrogenase deficiency; MIN:605850.
Dipeptidyl-peptidase I: Papillon-Lefevre syndrome, PALS; MIN:245000.
Dodecenoyl-CoA delta-isomerase: Trifunctional protein deficiency, type 2; MIN:607037.
Dolichyl-phosphate beta-D-mannosyltransferase: Congenital disorder of glycosylation type IE (CDG-IE); MIN:603503.
Dolichyl-phosphate-mannose--protein mannosyltransferase: Walker-Warbug syndrome; MIN:236670.
Electron-transferring-flavoprotein dehydrogenase: Glutaricaciduria IIA; MIN:231680.
Enoyl-CoA hydratase: Trifunctional protein deficiency, type 2; MIN:607037.
Enteropeptidase: Enterokinase deficiency; MIN:226200.
Estradiol 17 beta-dehydrogenase: Male pseudohermaphroditism; MIN:264300.
Ethanolamine kinase: Ethanolaminosis; MIN:227150.
Exo-alpha-sialidase: Sialidosis; MIN:256550.
FAD diphosphatase: Inosine triphosphate pyrophosphohydrolase deficiency; MIN:147520.
Fatty-acyl-CoA-transporting ATPase: Zellweger syndrome; MIM: 214100.
Ferrochelatase: Protoporphyria; MIN:177000.
Ferroxidase: Aceruloplasminemia; MIN:604290.
Formate--tetrahydrofolate ligase: Methyltetrahydrofolate cyclohydrolase deficiency; MIN:172460.
Fructose-bisphosphatase: Fructose-1,6-bisphosphatase deficiency; MIN:229700.
Fructose-bisphosphate aldolase: Hemolytic anemia due to aldolase A deficiency; MIN:103850.
Fumarate hydratase: Fumarase deficiency; MIN:606812.
Fumarylacetoacetase: Tyrosinemia I; MIN:276700.
Galactokinase: Galactokinase deficiency; MIN:230200.
Galactosylceramidase: Globoid cell leukodystrophy (GLD); MIN:245200.
Gamma-glutamyltransferase: Glutathionuria; MIN:231950.
Glucose-6-phosphatase: Glycogen storage disease Ia; MIN:232200.
Glucose-6-phosphate 1-dehydrogenase: Hemolytic anemia due to G6PD deficiency; MIN:305900.
Glucose-6-phosphate isomerase: Hemolytic anemia due to phosphoglucose isomerase deficiency; MIN:172400.
Glucosylceramidase: Gaucher disease type I; MIN:230800.
Glutamate decarboxylase: Pyridoxine-dependent infantile convulsions; MIN:266100.
Glutamate dehydrogenase (NAD(P)+): Hyperinsulinism-hyperammonemia syndrome (HHS); MIN:606762.
Glutamate formimidoyltransferase: Formiminotransferase deficiency (figluuria); MIN:229100.
Glutamate--cysteine ligase: Hemolytic anemia due to gamma-glutamylcysteine synthetase; MIN:230450.
Glutaryl-CoA dehydrogenase: Glutaricaciduria I; MIN:231670.
Glutathione peroxidase: Hemolytic anemia due to glutathione peroxidase deficiency; MIN:138320.
Glutathione synthase: Hemolytic anemia due to glutathione synthetase deficiency; MIN:231900.
Glutathione-disulfide reductase: Hemolytic anemia due to glutathione reductase deficiency; MIN:138300.
Glycerate dehydrogenase: Oxalosis II (glycericaciduria); MIN:260000.
Glycerol kinase: Hyperglycerolemia; MIN:307030.
Glycerone-phosphate O-acyltransferase: Rhizomelic chondrodysplasia punctata, type 2 (RCDP2); MIN:222765.
Glycine N-methyltransferase: Hypermethioninemia; MIN:606664.
Glycine dehydrogenase (decarboxylating): Nonketotic hyperglycinemia (NKH); MIN:605899.
Glycogen (starch) synthase: Glycogen storage disease 0; MIN:240600.
Glycosylceramidase: Disaccharide intolerance II; MIN:223000.
Guanidinoacetate N-methyltransferase: Guanidinoacetate methyltransferase deficiency; MIN:601240.
Guanylate cyclase: Leber congenital amaurosis type 1 (LCA1); MIN:204000.
H(+)-transporting two-sector ATPase: Neuropathy, ataxia, and retinitis pigmentosa; MIN:551500.
Hexokinase: Hemolytic anemia due to hexokinase deficiency; MIN:235700.
Histidine ammonia-lyase: Histidinemia; MIN:235800.
Histone acetyltransferase: Rubinstein-Taybi syndrome; MIN:180849.
Homogentisate 1,2-dioxygenase: Alkaptonuria; MIN:203500.
Hydroxyacylglutathione hydrolase: Glyoxalase II deficiency; MIN:138760.
Hydroxymethylbilane synthase: Acute intermittent porphyria; MIN:176000.
Hydroxymethylglutaryl-CoA lyase: HMG-CoA lyase deficiency; MIN:246450.
Hypoxanthine phosphoribosyltransferase: Lesch-Nyhan syndrome; MIN:300322.
Iduronate-2-sulfatase: Mucopolysaccharidosis II; MIN:309900.
Interstitial collagenase: Recessive epidermolysis bullosa dystrophia; MIN:226600.
Iodide peroxidase: Defect in thyroid hormonogenesis II; MIN:274500.
Isovaleryl-CoA dehydrogenase: Isovalericacidemia; MIN:243500.
Ketohexokinase: Fructosuria; MIN:229800.
Kynureninase: Xanthurenicaciduria; MIN:278600.
L-iditol 2-dehydrogenase: Sorbitol dehydrogenase deficiency; MIN:182500.
L-iduronidase: Mucopolysaccharidosis I; MIN:252800.
L-lactate dehydrogenase: Exertional myoglobinuria; MIN:150000.
L-lysine oxidase: Lysine intolerance; MIN:247900.
L-xylulose reductase: Pentosuria; MIN:260800.
Lactase: Disaccharide intolerance II; MIN:223000.
Lathosterol oxidase: Lathosterolosis; MIN:607330.
Leukocyte elastase: Cyclic hematopoiesis; MIN:162800.
Lipoprotein lipase: Hyperlipoproteinemia type IA; MIN:238600.
Long-chain acyl-CoA dehydrogenase: Long-chain acyl-CoA dehydrogenase deficiency; MIN:201460.
Long-chain-3-hydroxyacyl-CoA dehydrogenase: Maternal acute fatty liver of pregnancy (AFLP); MIN:600890.
Long-chain-fatty-acid--CoA ligase: Non-specific X-linked mental redardation type 63 (MRX63); MIN:300387.
Lysine(arginine) carboxypeptidase: Episodic angioedema; MIN:212070.
Lysozyme: Familial visceral amyloidosis; MIN:105200.
Magnesium-ATPase: Progressive familial intrahepatic cholestasis; MIN:211600.
Malonyl-CoA decarboxylase: Malonyl-CoA decarboxylase deficiency; MIN:248360.
Mannose-6-phosphate isomerase: Congenital disorder of glycosylation type IB (CDG-IB); MIN:602579.
Methenyltetrahydrofolate cyclohydrolase: Methyltetrahydrofolate cyclohydrolase deficiency; MIN:172460.
Methionine adenosyltransferase: Hypermethioninemia due to methionine adenosyltransferase; MIN:250850.
Methionine synthase: Methylcobalamin deficiency type G (CBLG); MIN:250940.
Methylcrotonyl-CoA carboxylase: Beta-methylcrotonylglycinuria type I; MIN:210200.
Methylenetetrahydrofolate dehydrogenase (NADP+): Methyltetrahydrofolate cyclohydrolase deficiency; MIN:172460.
Methylenetetrahydrofolate reductase (NADPH): Homocystinuria II (MTHFR deficiency); MIN:236250.
Methylglutaconyl-CoA hydratase: 3-methylglutaconicaciduria; MIN:250950.
Methylmalonate-semialdehyde dehydrogenase (acylating): Methylmalonate semialdehyde dehydrogenase deficiency; MIN:603178.
Methylmalonyl-CoA mutase: Methylmalonicaciduria I (B12-unresponsive); MIN:251000.
Mevalonate kinase: Mevalonicaciduria; MIN:251170.
Monophenol monooxygenase: Culocutaneous albinism, type I (OCA1); MIN:203100.
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase: Aspartylglucosaminuria; MIN:208400.
N-acetylgalactosamine-4-sulfatase: Mucopolysaccharidosis VI; MIN:253200.
N-acetylgalactosamine-6-sulfatase: Mucopolysaccharidosis IVA; MIN:253000.
N-acetylglucosamine-6-sulfatase: Mucopolysaccharidosis IIID; MIN:252940.
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase: Hereditary multiple exostoses type I (EXT1); MIN:133700.
N-acylmannosamine kinase: Inclusion body myopathy 2 (IBM2); MIN:600737.
N-sulfoglucosamine sulfohydrolase: Mucopolysaccharidosis IIIA; MIN:252900.
NADH dehydrogenase (ubiquinone): Leber hereditary optic neuropathy (LHON); MIN:535000.
Oligosaccharide alpha-1,6-glucosidase: Disaccharide intolerance I; MIN:222900.
Ornithine carbamoyltransferase: Ornithine transcarbamylase deficiency; MIN:311250.
Ornithine--oxo-acid transaminase: Ornithinemia with gyrate atrophy of choroid and retina; MIN:258870.
Orotate phosphoribosyltransferase: Oroticaciduria I; MIN:258900.
Orotidine-5'-phosphate decarboxylase: Oroticaciduria II; MIN:258920.
Palmitoyl-protein hydrolase: Infantile neuronal ceroid lipofuscinosis 1 (CLN1); MIN:256730.
Pantothenate kinase: Pantothenate kinase-associated neurodegeneration (PKAN); MIN:234200.
Peroxidase: Myeloperoxidase deficiency with disseminated candidiasis; MIN:254600.
Phenylalanine 4-monooxygenase: Phenylketonuria; MIN:261600.
Phosphatidylcholine--sterol O-acyltransferase: Norum disease; MIN:245900.
Phosphatidylinositol N-acetylglucosaminyltransferase: Paroxysmal nocturnal hemoglobinuria; MIN:311770.
Phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase: Juvenile intestinal polyposis; MIN:174900.
Phosphodiesterase I: Ossification of the posterior longitudinal ligament of spine; MIN:602475.
Phosphoenolpyruvate carboxykinase (GTP): PEPCK deficiency; MIN:261650.
Phosphogluconate dehydrogenase (decarboxylating): 6-phosphogluconate dehydrogenase deficiency; MIN:172200.
Phosphoglycerate dehydrogenase: 3-phosphoglycerate dehydrogenase deficiency; MIN:601815.
Phosphoglycerate kinase: Hemolytic anemia due to phosphoglycerate kinase deficiency; MIN:311800.
Phosphoglycerate mutase: Myopathy due to phosphoglycerate mutase deficiency; MIN:261670.
Phosphoinositide 5-phosphatase: Lowe oculocerebrorenal syndrome; MIN:309000.
Phosphomannomutase: Congenital disorder of glycosylation type IA (CDG-IA); MIN:212065.
Phosphorylase: Glycogen storage disease V; MIN:232600.
Phosphorylase kinase: Glycogen storage disease VIII; MIN:306000.
Phytanoyl-CoA dioxygenase: Refsum disease; MIN:266500.
Plasma kallikrein: Prekallikrein deficiency (PKK); MIN:229000.
Plasmin: Thrombophilia; MIN:188050.
Porphobilinogen synthase: Acute hepatic porphyria; MIN:125270.
Procollagen N-endopeptidase: Ehlers-Danlos syndrome, type VII; MIN:225410.
Procollagen glucosyltransferase: Epidermolysis bullosa with deficiency of EC 2.4.1.66; MIN:131880.
Procollagen-lysine 5-dioxygenase: Ehlers-Danlos syndrome, type VI; MIN:225400.
Propionyl-CoA carboxylase: Propionicacidemia; MIN:606054.
Protein C (activated): Protein C deficiency; MIN:176860.
Protein-glutamine gamma-glutamyltransferase: Autosomal recessive lamellar ichthyosis (LI); MIN:242300.
Protoporphyrinogen oxidase: Porphyria variegata; MIN:176200.
Purine-nucleoside phosphorylase: T-cell immunodeficiency with neurologic disorder; MIN:164050.
Pyrimidine-5'-nucleotide nucleosidase: Hemolytic anemia due to EC 3.2.2.10 deficiency; MIN:266120.
Pyruvate carboxylase: Pyruvate carboxylase deficiency; MIN:266150.
Pyruvate dehydrogenase (acetyl-transferring): Ataxia with lactic acidosis I; MIN:208800.
Pyruvate kinase: Hemolytic anemia due to pyruvate kinase deficiency; MIN:266200.
Retinol dehydrogenase: Fundus albipunctatus; MIN:136800.
Rhodopsin kinase: Oguchi disease-2; MIN:258100.
Ribose-phosphate diphosphokinase: Gout (one form) with urate urolithiasis; MIN:311850.
Saccharopine dehydrogenase (NAD+, L-lysine forming): Saccharopinuria; MIN:268700.
Sarcosine dehydrogenase: Sarcosinemia; MIN:268900.
Sepiapterin reductase: Sepiapterin reductase deficiency; MIN:182125.
Serine C-palmitoyltransferase: Hereditary sensory neuropathy type 1 (HSN1); MIN:162400.
Sphingomyelin phosphodiesterase: Niemann-Pick disease, type A; MIN:257200.
Steroid 11-beta-monooxygenase: Adrenal hyperplasia IV; MIN:202010.
Steroid 17-alpha-monooxygenase: Adrenal hyperplasia V; MIN:202110.
Steroid 21-monooxygenase: Adrenal hyperplasia III; MIN:201910.
Sterol esterase: Wolan disease; MIN:278000.
Steryl-sulfatase: X-linked ichthyosis; MIN:308100.
Succinate-semialdehyde dehydrogenase: 4-hydroxybutyricaciduria; MIN:271980.
Sucrose alpha-glucosidase: Disaccharide intolerance I; MIN:222900.
Sulfite oxidase: Sulfite oxidase deficiency; MIN:272300.
Superoxide dismutase: Amyotrophic lateral sclerosis 1 (ALS1); MIN:105400.
T-plasminogen activator: Familial hyperfibrinolysis; MIN:173370.
Thrombin: Prothrombin deficiency; MIN:176930.
Thromboxane-A synthase: Hemorrhagic diathesis due to deficiency of thromboxane; MIN:274180.
Thymidine phosphorylase: Mitochondrial neurogastrointestinal encephalomyopathy; MIN:603041.
Transaldolase: Transaldolase deficiency; MIN:606003.
Transketolase: Wernicke-Korsakoff syndrome; MIN:277730.
Triacylglycerol lipase: Hepatic lipase deficiency; MIN:151670.
Triosephosphate isomerase: Hemolytic anemia due to triosephosphate isomerase deficiency; MIN:190450.
Tripeptidyl-peptidase I: Classical late-infantile neuronal ceroid lipofuscinosis; MIN:204500.
Trypsin: Hereditary pancreatitis (HPC); MIN:167800.
Tyrosine 3-monooxygenase: Autosomal recessive Segawa syndrome; MIN:605407.
Tyrosine transaminase: Tyrosinemia II (Richner-Hanhart syndrome); MIN:276600.
UDP-N-acetylglucosamine 2-epimerase: Sialuria; MIN:269921.
UDP-glucose 4-epimerase: Galactose epimerase deficiency; MIN:230350.
UDP-glucose--hexose-1-phosphate uridylyltransferase: Galactosemia; MIN:230400.
UDP-glucuronosyltransferase: Hyperbilirubinemia I (Gilbert syndrome); MIN:143500.
Uridine kinase: Immunodeficiency disease; MIN:191710.
Uroporphyrinogen decarboxylase: Porphyria cutanea tarda; MIN:176090.
Uroporphyrinogen-III synthase: Congenital erythropoietic porphyria (CEP); MIN:263700.
Valine--3-methyl-2-oxovalerate transaminase: Valinemia; MIN:277100.
Xaa-His dipeptidase: Carnosinemia; MIN:212200.
Xaa-Pro dipeptidase: Prolidase deficiency; MIN:170100.
Xanthine dehydrogenase: Xanthinuria; MIN:278300.
Xanthine oxidase: Xanthinuria; MIN:278300.
Xylan 1,4-beta-xylosidase: Xylosidase deficiency; MIN:278900.
Xylosylprotein 4-beta-galactosyltransferase: Ehlers-Danlos syndrome, progeroid form; MIN:130070.
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