Aminozuur stofwisselingsziekten

 

 

Zie ook de  Aminozuren

 

De HyperphenylalaninemieŽn

 

Biocarta: biosynthesis of phenylalanine and tyrosine in bacteria and plants.


 

  1. Hyperphenylalaninemia, mild

    Synoniemen:  HPA

    OMIM:  261600


    e-Medicine: Hyperphenylalaninemia

  2. Phenylketonuria  ( PKU )

    Synoniemen:  Folling disease;  Phenylalanine hydroxylase deficiency; PAH deficiency; Oligophrenia Phenylpyruvica

    OMIM: 261600


    OMIM: Clinica Synopsis

    Who Named It?:  Ivar AsbjÝrn FÝlling

    e-Medicine: Phenylketonuria

    ExPASy:     Phenylalanine 4-monooxygenase  EC 1.14.16.1

    Enzym synoniemen:  Phenylalanine 4-hydroxylase;  Phenylalaninase;  PAH

    O2 + phenylalanine + tetrahydrobiopterin  < = >  tyrosine + dihydrobiopterin + H2

    Extra informatie: Nederlandse Phenylketonurie Vereniging

     

 

Defecten van het biopterine metabolisme:

 

  1. Phenylketonuria II

    Synoniemen: Dihydropteridine Reductase Deficiency;  PKU II;  Atypical PKU  

    OMIM: 261630


    OMIM: Clinical Synopsis

    ExPASy:    Dihydropteridine reductase  EC 1.6.99.7

    NADPH  +  6,7-dihydropteridine   < = >   5,6,7,8-tetrahydropteridine  +  NADP+

     
  2. Dehydratase Deficiency

     
  3. GTP Cyclohydrolase I Deficiency

    Synoniemen: Guanosine Triphosphate  Cyclohydrolase I deficiŽntie;  GCH Deficiency; Hyperphenylalaninemia with neopterin deficiency; Severe atypical phenylketonuria due to GCH deficiency

    OMIM: 233910


    OMIM: Clinical Synopsis

    ExPASy:    GTP cyclohydrolase I. EC 3.5.4.16

    GTP + 2H2O <=>  formate + 2-amino-4-hydroxy-6-(erythro-1,2,3- trihydroxypropyl) dihydropteridine triphosphate 

     
  4. 6-a pyruvoyltetrahydropterin synthase ( PTS )

    Synoniemen: PTPS

    OMIM:  261640

    OMIM: Clinical Synopsis

    ExPASy:    6-pyruvoyltetrahydropterin synthase  EC 4.6.1.10

    Enzym synoniemen: 6-pyruvoyl tetrahydrobiopterin synthase;  PTPS

    6-(L-erythro-1,2-dihydroxypropyl 3-triphosphate)-7,8-dihydropteridin   < = > 6-(1,2-dioxopropyl)-5,6,7,8-tetrahydropterin  + triphosphate 

     
  5. Hyperphenylalaninemia with primapterinuria

    Synoniemen: CADH deficiency;  Primapterinuria;  PCBD deficiency; Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency

    OMIM: 264070


    OMIM: Clinical Synopsis

    ExPASy:   4a-hydroxytetrahydrobiopterin dehydratase  EC 4.2.1.96

    Enzym synoniemen:   Tetrahydrobiopterin dehydratase;    Pterin-4-alpha-carbinolamine dehydratase; 4-alpha-hydroxy-tetrahydropterin dehydratase

    (6R)-6-(L-erythro-1,2-dihydroxypropyl)-5,6,7,8-tetrahydro-4a-hydroxypterin     <= > (6R)-6-(L-erythro-1,2-dihydroxypropyl)-7,8-dihydro-6H-pterin + H2O

     

 

Hypertyrosinemie:

 

Biocarta: biosynthesis of phenylalanine and tyrosine in bacteria and plants.

 

  1. Tyrosinemie type 1  (  lever-nier )

    Synoniemen:   Fumarylacetoacetase  Deficiency;  Hepatorenal tyrosinemia;  FAH deficiency

    OMIM:  276700

    OMIM: Clinical Synopsis

    e-Medicine:  Tyrosinemia

    ExPASy:   Fumarylacetoacetase   EC 3.7.1.2

    Enzym synoniemen:   Beta-diketonase;  Fumarylacetoacetate hydrolase

    4-fumarylacetoacetate + H2O < = > acetoacetate + fumarate

     
  2. Tyrosinemie transaminase deficiŽntie ( Tyrosinemie type II )

    Synoniemen: 
    Tyrosine aminotransferase deficiency; TAT deficiency;  Richner-Hanhart syndrome; Tyrosinemia Type II;

    OMIM:  276600


    OMIM: Clinical Synopsis

    ExPASy:  Tyrosine aminotransferase  EC 2.6.1.5

    Enzym synoniemen: Tyrosine transaminase

    e-Medicine:   
    Tyrosinemia

    L-tyrosine + 2-oxoglutarate  <= > 4-hydroxyphenylpyruvate + L-glutamate 


     
  3. Tyrosinemie type III

    Synoniemen:  4-a-Hydroxyphenylpyruvate Dioxygenase deficiency; 4-a-Hydroxyphenylpyruvic Acid  Oxidase deficiency

    OMIM: 276710


    OMIM: Clinical Synopsis

    ExPASy:  4-hydroxyphenylpyruvate dioxygenase. EC 1.13.11.27

    Enzym synoniemen: p-Hydroxyphenylpyruvate dioxygenase; 4-hydroxyphenylpyruvate hydroxylase; p-hydroxyphenylpyruvate oxidase

    e-Medicine:   
    Tyrosinemia

    p-hydroxyphenylpyruvate + ascorbate + O2  <=> homogentisate + dihydroascorbate + H2O + CO2

     
  4. Hawkinsinuria

    Synoniemen:  4-a-Hydroxyphenylpyruvate Hydroxylase deficiency

    OMIM:  140350


    OMIM:  Clinical Synopsis


     
  5. Maleylacetoacetate isomerase Deficiency

    OMIM:  603758

    ExPASy: EC 5.2.1.2    Maleylacetoacetate isomerase

    Synoniemen voor dit enzym zijn: Maleylacetone isomerase

    4-maleylacetoacetate <=> 4-fumarylacetoacetate

     
  6. Hypermethioninemia

    OMIM: 250850

    ExPASy: EC 2.5.1.6  
    Methionine adenosyltransferase

    S-adenosylmethionine synthetase, Adomet synthetase

 

 

Stoornissen van de Histidine stofwisseling:

 

Biocarta: catabolic pathway for histidine.

 

  1. Histidinemie

    Synoniemen: Histidase deficiŽntie;   HAL deficiency;  Histidine Ammonia Lyase deficiency

    OMIM: 235800


    OMIM:  Clinical Synopsis

    ExPASy: Histidine ammonia-lyase  EC 4.3.1.3

    Enzym synoniemen: Histidinase;  Histidase;  Histidine alpha-deaminase

    L-hystidine <=> urocanate + NH3

     
  2. Histidinuria due to a renal tubular defect

    OMIM: 235830

    OMIM:  Clinical Synopsis

     
  3. Urocanase deficiency

    Synoniemen:  Urocanic Aciduria

    OMIM: 276880


    OMIM:  Clinical Synopsis

    ExPASy:  Urocanate hydratase  EC 4.2.1.49

    Enzym synoniemen  Urocanase; Imidazolonepropionate hydrolase

    4,5-dihydro-4-oxo-5-imidazolepropanoate <=> urocanate + H2O

 

 

Stoornissen van de Proline en Hydroxyproline stofwisseling:

 

Biocarta: biosynthesis of proline.

 

  1. Type I Hyperprolinemia

    Synoniemen:  Proline Oxidase Deficiency

    OMIM: 239500

    OMIM:  Clinical Synopsis

    ExPASy:  Proline dehydrogenase  EC 1.5.99.8

    L-proline +  acceptor + H2O  < = >  (S)-1-pyrroline-5-carboxylate  +  reduced acceptor

     
  2. Type II Hyperprolinemia

    Synoniemen:  1-a- pyrroline-5-carboxylate dehydrogenase deficiency

    OMIM: 239510

    OMIM:  Clinical Synopsis

    ExPASy:  1-pyrroline-5-carboxylate dehydrogenase  EC 1.5.1.12

    1-pyrroline-5-carboxylate + NAD+ + H2O  < = >  L-glutamate + NADH

     
  3. Hydroxyprolinemia

    Synoniemen:  4-a- hydroxy-L-proline oxidase deficiency

    OMIM:   237000


    OMIM:  Clinical Synopsis

    ExPASy:  4-oxoproline reductase   EC 1.1.1.104

    Enzym synoniemen: Hydroxyproline oxidase

    4-hydroxy-L-proline + NAD+  < = >  4-oxoproline + NADH

     
  4. Prolidase Deficiency with hyperiminodipeptiduria

     
  5. Peptidase D; PEPD   ( Prolidase deficiency )

    OMIM: 170100

    OMIM:  Clinical Synopsis

    ExPASy:  Xaa-Pro dipeptidase  EC  3.4.13.9

    Enzym synoniemen: X-Pro dipeptidase;  Proline dipeptidase;  Imidodipeptidase; Prolidase; Peptidase D; Gamma-peptidase

    Hydrolysis of Xaa-|-Pro dipeptides; also acts on aminoacyl- hydroxyproline analogs. No action on Pro-|-Pro.

     
  6. Hypoprolinemia

    Synoniemen: Hypoornithinemia, hypocitrullinemia, hypoargininemia, and hypoprolinemia

    OMIM: 138250

     

 


De HyperornithinemieŽn:

 

  1. Gyrate Atrophy of the Choroid and Retina

    Synoniemen:
    Ornithine-delta-aminotransferase deficiency; ornithine aminotransferase deficiency; OAT deficiency; OKT deficiency

    OMIM: 238970


    OMIM: Clinical synopsis

    ExPASy:
    EC 2.6.1.13

  2. Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

    Synoniemen:  HHH syndrome; HHHS; Ornithine translocase deficiency

    OMIM: 238970


    OMIM: Mitochondrial Ornithine Transporter, 1 ;  ORNT1

    OMIM:  Clinical Synopsis

    e-Medicine:  Hyperammonemia-Hyperornithinemia-Homocitrullinemia Syndrome

 

 

Guanidinoacetate Methyltransferase Deficiency

 

  1. guanidinoacetate methyltransferase deficiency

    OMIM: 601240

    OMIM:  Clinical Synopsis

     

 

Stoornissen in de ureumcyclus:
 

Zie ook de Ureumcyclus

e-Medicine: Hyperammonemia
 

  1. Classic Citrullinemia  ( argininosuccinaat synthetase deficiŽntie: citrullinemie )

    Synoniemen;   Argininosuccinate synthetase deficiŽntie;   ASS  deficiency;  Citrullinuria; Citrullinemia Type I

    OMIM:  215700

    OMIM:  Clinical Synopsis  ( klinisch overzicht )

    e-Medicine:  Citrullinemia

    ExPASy:  Argininosuccinate synthase:   EC 6.3.4.5

    Enzym synoniemen: Argininosuccinate synthetase; Citrulline--aspartate ligase; Arginine succinate synthetase

    ATP + L-citrulline + L-aspartate <=> AMP + diphosphate + L-argininosuccinate

    Enzym diagnostiek: Argininosuccinaat synthetase

     
  2. Hyperammonemia due to Ornithine Transcarbamylase Deficiency 
    ( Ornithine carbamyl transferase deficiŽntie: OCT-deficiŽntie )


    Synoniemen: Ornithine carbamoyltransferase deficiency ; OCT deficiency;  OCTD

    OMIM:  311250


    OMIM:  Clinical Synopsis  ( klinisch overzicht )

    e-Medicine: 
    Ornithine Transcarbamylase Deficiency

    ExPASy:  Ornithine carbamoyltransferase:    EC 2.1.3.3

    Enzym synoniemen: Ornithine transcarbamylase; Citrulline phosphorylase; OTCase; OTC.

     
    carbamoyl phosphate + L-ornithine <=> phosphate + L-citrulline

    Enzym diagnostiek: OCT


     
  3. Argininemia (  Arginase deficiŽntie: hyperargininemie )

    Synoniemen:  Arginase deficiŽntie;  ARG 1 deficiency;  Argininemia ; Hyperargininemia


    OMIM:  207800

    OMIM: Clinical Synopsis  ( klinisch overzicht )

    e-Medicine: 
    Arginase Deficiency

    ExPASy:  Arginase:   EC 3.5.3.1

    Enzym synoniemen : arginine amidinase ; Canavanase

    L-arginine + H2O <=> L-ornithine + urea

    Enzym diagnostiek:  Arginase


     
  4. Hyperammonemia due to N-acetylglutamate synthetase
    ( N-acetylglutamaat synthetase deficiŽntie )


    Synoniemen:  N-acetylglutamate synthetase deficiŽntie;  NAGS defeciciency

    OMIM:  237310


    OMIM:  Clinical Synopsis  ( klinisch overzicht )

    e-Medicine:
    N-Acetylglutamate Synthetase Deficiency

    ExPASy:  Amino-acid N-acetyltransferase:  EC 2.3.1.1


    acetyl-CoA + L-glutamate <=> CoA + N-acetyl-L-glutamate


     
  5. Argininosuccinic aciduria  (Argininosuccinaat lyase deficiŽntie: argininosuccinaat acidurie )

    Synoniemen: Argininosuccinate lyase deficiŽntie;   
    ASL deficiency;  Argininosuccinase Deficiency;Argininosuccinic acid  lyase deficiency

    OMIM: 207900

    OMIM:  Clinical Synopsis  ( klinisch overzicht )

    e-Medicine: Argininosuccinate Lyase Deficiency

    ExPASy:  Argininosuccinate lyase:   EC 4.3.2.1

    Enzym synoniemen: Arginosuccinase


    N- (L-arginino) succinate  <=> fumarate + L-arginine


    Enzym diagnostiek: ASL


     
  6. Hyperammonemia due to Carbamoylphosphate Synthetase  I  deficiency  
    ( Carbamylfosfaat synthetase deficiŽntie: CPS deficiŽntie )


    Synoniemen:  Carbamoylphosphate synthetase I deficiency;  CPS1 deficiency

    OMIM:  237300

    OMIM:  Clinical Synopsis  ( klinisch overzicht )

    e-Medicine:  Carbamoyl Phosphate Synthetase Deficiency

    ExPASy:  Carbamoyl-phosphate synthase (ammonia):
      EC 6.3.4.16

    Enzym synoniemen: Carbamoyl-phosphate synthetase (ammonia); Carbamoyl-phosphate synthetase I; CPS I.;Carbamoylphosphate synthetase (ammonia); Carbon-dioxide--ammonia ligase


    2ATP + NH3 + CO2 + H2O <=> 2ADP + phosphate + carbamoyl phosphate


    Enzym diagnostiek: CPS

 

 

Stoornissen in de Lysine stofwisseling:

 

Biocarta: Biosynthesis of  lysine

 

  1. Hyperlysinemia

    Synoniemen:  alpha-aminoadipic semialdehyde synthase deficiency;  Lysine Intolerance;

    lysine:alpha ketoglutarate  reductase deficiency;  L-Lysine: NAD-Oxido-Reductase deficiency

    OMIM: 238700


    OMIM:  Clinical Synopsis

     
  2. Hyperpipecolatemia

    Synoniemen: Hyperpipecolicacidemia

    OMIM:  239400


    OMIM:  Clinical Synopsis

 

 

Stoornissen van de zijketen aminozuren

en de ketozuren  stofwisseling:

 

Biocarta : Biosynthesis of valine

 

  1. Valinemia

    Synoniemen: Valine Transaminase deficiency;   Hypervalinemia      

    OMIM:  277100

    OMIM: Clinical Synopsis

    ExPASy:  Valine--3-methyl-2-oxovalerate aminotransferase  EC 2.6.1.32

    Enzym synoniemen; Valine--isoleucine transaminase. Valine--isoleucine aminotransferase

    L-valine + (S)-3-methyl-2-oxopentanoate <=> 3-methyl--2-butanoate + L-isoleucine

     
  2. Hyperleucine-Isoleucinemia

    OMIM:  238340

    OMIM:  Clinical Synopsis

     
  3. Maple Syrup Urine Disease;  Type 1A

    Synoniemen:  branched chain keto aciduria ;  MSUD Type IA;  MSUD;   keto acid decarboxylase deficiency; branched chain alpha-keto acid dehydrogenase deficiency;  BCKD deficiency

    OMIM:  248600


    OMIM: Clinical Synopsis

    ExPASy: 3-methyl-2-oxobutanoate dehydrogenase (lipoamide). EC 1.2.4.4

    Enzym synoniemen: 2-oxoisovalerate dehydrogenase; Branched-chain alpha-keto acid dehydrogenase, Branched-chain alpha-keto acid decarboxylase

    3-methyl-2-oxobutanoate + lipoamide  <=>  S-(2-methylpropanoyl) dihydrolipoamide + CO2

     
  4. Maple Syrup Urine Disease Type 1B

    OMIM:  248600

    OMIM: Clinical Synopsis

     
  5. Maple Syrup Urine Disease Type II

    OMIM:  248600

    OMIM: Clinical Synopsis

     
  6. Lactic acidose due to Lipoamide Dehydrogenase Deficiency

    Synoniemen: Maple Syrup Urine Disease Type III; LAD deficiency; Dihydrolipoamide dehydrogenase deficiency

    OMIM:
    246900

    ExPASy: Dihydrolipoamide dehydrogenase  EC 1.8.1.4

    Enzym synoniemen: Lipoamide reductase (NADH); Dihydrolipoyl dehydrogenase; Diaphorase; E3 component of alpha-ketoacid dehydrogenase complexes; Lipoyl dehydrogenase

    dihydrolipoamide + NAD+ < = > lipoamide + NADH

 

 

Ziekten van aminozuren die een zijketen hebben met een
zwavelbevattende groep:

 

  1. Methionine Adenosyltransferase Deficiency

    Synoniemen:  MAT Deficiency ; MAT I/III deficiency; Hypermethioninemia; Isolated persistent hypermethioninemia

    OMIM: 250850


    OMIM: Clinical Synopsis

    ExPASy: Methionine adenosyltransferase EC 2.5.1.6

    Enzym synoniemen:  S-adenosylmethionine synthetase;  Adomet synthetase

    ATP + L-methionine + H2O <=> phosphate + diphosphate + S-adenosyl-L-methionin

     
  2. Homocystinuria  ( Homocystinuria I, Classic form )

    Synoniemen: Cystathionine beta- Synthase Deficiency; CBS deficiency

    OMIM: 236200


    OMIM  Clinical Synopsis

    ExPASy: Cystathionine beta-synthase  EC 4.2.1.22

    Enzym synoniemen : Serine sulfhydrase; Beta-thionase; Methylcysteine synthase

    L-serine + L-homocysteine <=> cystathionine + H2O

     
  3. Cystathioninuria

    Synoniemen: Cystathionase Deficiency

    OMIM: 219500


    OMIM: Clinical Synopsis

    ExPASy:  Cystathionine gamma-lyase;  EC 4.4.1.1

    Enzym synoniemen : Homoserine deaminase; Homoserine dehydratase; Gamma cystathionase; Cystine desulfhydrase; Cysteine desulfhydrase; Cystathionase; Cystathioninase

    L-cystathionine + H2O  < = >  L-cysteine + NH3 + 2-oxobutanoate

 

 

Sarcosinemia:

 

  1. Sarcosinemia

    OMIM: 268900

    OMIM: clinical synopsis

 

 

Nonketotische Hyperglycinemie

 

  1. Nonketotic Hyperglycinemia   ( glycine encephalopathy (GCE)

    OMIM: 605899

    OMIM: Clinical Synopsis

     
  2. The enzyme system for cleavage of glycine (glycine cleavage system):

    Aminomethyltransferase

    synoniemen: Glycine-cleavage system T-protein, Tetrahydrofolate aminomethyltransferase

    ExpASy: EC 2.1.2.10

    OMIM: 238310    
    T protein

    Glycine dehydrogenase (decarboxylating).

    Synoniemen: Glycine decarboxylase, Glycine cleavage system P-protein, P-protein, Glycine-cleavage complex, Glycine:lipoylprotein oxidoreductase (decarboxylating and acceptor-
    aminomethylating), Protein P1.

    ExPASy: EC 1.4.4.2

    OMIM: 238300     P protein

    Dihydrolipoyl dehydrogenanse

    Synoniemen: LDP-Glc, LDP-Val, Dehydrolipoate dehydrogenase, Diaphorase, Dihydrolipoamide dehydrogenase, Dihydrolipoamide:NAD(+) oxidoreductase, Dihydrolipoic dehydrogenase, Dihydrolipoyl dehydrogenase, Dihydrothioctic dehydrogenase, Lipoamide dehydrogenase (NADH), Lipoamide oxidoreductase (NADH), Lipoamide reductase, Lipoamide reductase (NADH), Lipoate dehydrogenase, Lipoic acid dehydrogenase, Lipoyl dehydrogenase, E3 component of alpha-ketoacid dehydrogenase complexes.

    ExPASy: EC 1.8.1.4

    Glycine cleavage system H protein ( GCDH )

    OMIM: 238330
     

 

 

Ziekten van beta- en gamma aminozuren in vrije- en peptidegebonden vorm:

 

  1. Dihydropyrimidine Dehydrogenase; DPYD

    Synoniemen: Dihydropyrimidinuria

    OMIM: 274270


    OMIM: Clinical Synopsis

    ExPASy:  Dihydropyrimidine dehydrogenase (NADP+);  EC 1.3.1.2

    Enzym synoniemen : Dihydrouracil dehydrogenase (NADP+) ; Dihydrothymine dehydrogenase

    5,6-dihydrouracil + NADP <=> uracil + NADPH

     
  2. Dihydropyrimidinase Deficiency

    OMIM: 222748

    OMIM: Clinical Synopsis

    ExPASy:  Dihydropyrimidinase;  EC 3.5.2.2

    Enzym synoniemen : Hydantoinase

    5,6-dihydrouracil + H2O <=> 3-ureidopropionate

     
  3. β-alanine synthase deficiency

     
  4. Hyper-beta-Alaninemia

    Synoniemen: Hyperalaninemia

    OMIM: 237400


    OMIM: Clinical Synopsis

     
  5. Methylmalonate semialdehyde dehydrogenase deficiency

     
  6. Hyper-β-aminoisobutyric aciduria

    OMIM: 210100

    OMIM: Clinical Synopsis

     
  7. Hyper-beta-AiBuria

     
  8. Pyridoxine (vitamin B6) dependent epilepsy

    Synoniemen: Pyridoxine dependency with seizures

    OMIM: 266100


    OMIM: Clinical Synopsis

    ExPASy: Glutamate decarboxylase;  EC 4.1.1.15

    L-glutamate <=> 4-aminobutanoate + CO2

     
  9. 4-a-aminobutyrate aminotransferase; ABAT

    Synoniemen: Gamma-aminobutyrate transaminase ( GABAT ); GABA transferase

    OMIM: 137150


    OMIM:  Clinical Synopsis

    ExPASy: 4-aminobutyrate aminotransferase;  EC 2.6.1.19

    Enzym synoniemen :  Gamma-amino-N-butyrate transaminase ; GABA transaminase; Beta-alanine--oxoglutarate aminotransferase

    4-aminobutanoate + 2-oxoglutarate <=> succinate semialdehyde + L-glutamate

     
  10. Succinic Semialdehyde Dehydrogenase Deficiency

    Synoniemen: 4-hydroxybutyric aciduria

    OMIM: 271980


    OMIM: Clinical Synopsis

    ExPASy: Succinate-semialdehyde dehydrogenase (NADP+ );  EC 1.2.1.16

    Succinate semialdehyde + NADP+ + H2O <=> succinate + NADPH

     
  11. Carnosinemia

    Synoniemen: Carnosinase Deficiency

    OMIM: 212200


    OMIM: Clinical Synopsis

    ExPASy: Xaa-His dipeptidase;  EC 3.4.13.3

    Enzym synoniemen : X-His dipeptidase; Aminoacyl-histidine dipeptidase ; Homocarnosinase; Carnosinase

    reacties : Hydrolysis of Xaa-|-His dipeptides

     
  12. Homocarnosinosis

    Synoniemen: Homocarnosinase deficiency

    OMIM: 236130


    OMIM: Clinical Synopsis

 

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