Stoornissen betreffende de stofwisseling van organische zuren

 

 

 

Alkaptonurie

Alkaptonuria

  1. Alkaptonuria

    Synoniemen: AKU;  Homogentisic acid oxidase deficiency; Homogentisaat-1,2-dioxigenase deficiŽntie

    OMIM: 203500


    OMIM: Clinical Synopsis

    e-Medicine:  Alkaptonuria

    ExPASy: Homogentisate 1,2-dioxygenase;  EC 1.13.11.5

    Synoniemen voor dit enzym: Homogentisicase,  Homogentisate oxygenase,  Homogentisic acid oxidase

    Homogentisate  +  O2  <=> 4-maleylacetoacetate
     

 

L-2-α-Hydroxyglutaar acidemie

L-2-α-Hydroxyglutaricacidemia

 

  1. L-2-α-Hydroxyglutaricacidemia

    OMIM:  236792


    OMIM: Clinical Synopsis
     

 

D-2-α-Hydroxyglutaar acidurie:

D-2-α-Hydroxyglutaricaciduria
 

  1. D-2-α-Hydroxyglutaricaciduria

    OMIM: 600721

    OMIM: Clinical Synopsis

 

 

Vertakte-keten organo-acidurieŽn:

Stoornissen betreffende de afbraak van Leucine:


 

  1. Isovaleric acidemia; IVA   ( Isovaleriaan acidurie IVA )

    Synoniemen: Isovaleric acid-CoA Dehydrogenase Deficiency;  IVD Deficiency

    OMIM: 243500

    OMIM: clinical synopsis

    ExPASy: Isovaleryl-CoA dehydrogenase; EC 1.3.99.10

    3-methylbutanoyl-CoA +  ETF  <=>  3-methylbut-2-enoyl-CoA  +  reduced ETF


     
  2. Isolated deficiency of  3-Methyl crotonyl CoA Carboxylase

    (  3-a-Methyl crotonyl CoA Carboxylase 1 deficiency  )

    Synoniemen: 3-a-methylcrotonylglycinuria I

    OMIM: 210200

    OMIM: clinical synopsis

    Extra informatie: Methylcrotonyl-CoA carboxylase

    ExPASy:  Methylcrotonyl-CoA carboxylase;   EC 6.4.1.4

    Enzym synoniem: Beta-methylcrotonyl-CoA carboxylase

    ATP + 3-methylcrotonyl-CoA + HCO3-   <>  ADP + phosphate + 3-methylglutaconyl-CoA


     
  3. 3-Methylglutaconic Aciduria     ( 3-Methylglutacon acidurie );  Type I,  Type II , Type III  and Type IV



    3-α-Methylglutaconicaciduria Type I   ( 3-Methylglutacon acidurie )

    Synoniemen:  3-α-Methylglutaconyl-CoA Hydratase Deficiency; 3-α-MG CoA Hydratase deficiency;  3-α-methylglutaconicaciduria type I

    OMIM: 250950


    OMIM: Clinical Synopsis

    ExPASy: Methylglutaconyl-CoA hydratase;  EC 4.2.1.18

    (S)-3-hydroxy-3-methylglutaryl-CoA  <=>  trans-3-methylglutaconyl-CoA  + H2O


    3-α-Methylglutaconicaciduria Type II   (  BARTH SYNDROME  )

    Synoniemen: Cardioskeletal Myopathy with Neutropenia and abnormal mitochondria,  MGA Type II

    OMIM: 302060

    OMIM: Clinical Synopsis


    Extra Informatie:
    Barth Syndroom



    3-α-Methylglutaconicaciduria Type III 
      ( Costeff optic atrophy syndrome )

    Synoniemen: MGA3;  Optic Atrophy Plus Syndrome

    OMIM: 258501

    OMIM: Clinical Synopsis


    Who named it?: Hanan Costeff


    3-α-Methylglutaconicaciduria Type III      "Unclassified" with Normal 3-Methylglutaconyl-CoA Hydratase Levels

    Synoniemen: MGA Type IV

    OMIM: 250951


    OMIM: Clinical Synopsis


     

  4. 3-α-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency

    Synoniemen: HMG-CoA Lyase Deficiency;  HL Deficiency; Hydroxymethylglutaricaciduria

    OMIM: 246450


    OMIM:  Clinical Synopsis

    ExPASy: Hydroxymethylglutaryl-CoA lyase;  EC 4.1.3.4

    Synoniemen voor dit enzym: 3-hydroxy-3-methylglutarate-CoA lyase,   HMG-CoA lyase.

    (S)-3-hydroxy-3-methylglutaryl-CoA  <=>  acetyl-CoA  +  acetoacetate

     
  5. Mevalonic Aciduria ( Mevalonaat Acidurie )

    Synoniemen: Mevalonate Kinase Deficiency

    OMIM: 251170

    OMIM: Clinical Synopsis

    ExPASy: Mevalonate kinase;  EC 2.7.1.36

    Human Genetic Disorders: Mevalonicaciduria  ;   Hyper-IgD syndrome (HIDS)

    ATP  +  (R)-mevalonate  <=>  ADP  +  (R)-5-phosphomevalonate

 

 

Vertakte-keten organo-acidurieŽn:

 


Stoornissen betreffende de afbraak van Isoleucine:

 

  1. Mitochondrial acetoacetyl-CoA thiolase deficiency

    (  Alpha-methylacetoaceticaciduria  )


    OMIM: 203750

    OMIM: Clinical Synopsis

    ExPASy: Acetyl-CoA C-acetyltransferase;  EC 2.3.1.9

    Enzym synoniemen: Acetoacetyl-CoA thiolase

    2 acetyl-CoA <=> CoA  +  acetoacetyl-CoA


     
  2. Propionic acidemia

    propion-acidemieŽn

     
  3. Methylmalonic acidemia

    methylmalonzuur acidemie

 

 

Stoornissen betreffende de afbraak van Valine:

 

  1. 3-Hydroxyisobutyryl-CoA Deacylase Deficiency  ( Methacrylicaciduria )

    Synoniemen: Beta-hydroxyisobutyryl-CoA Deacylase deficiency; valine metabolic defect

    OMIM: 250620


    OMIM: Clinical Synopsis

     
  2. 3-α-Hydroxyisobutyric Aciduria

    OMIM: 236795

    OMIM:  Clinical Synopsis

     
  3. isolated isobutyryl-CoA dehydrogenase deficiency

     
  4. Methylmalonic Semialdehyde Dehydrogenase Deficiency

     
  5. Ethylmalonic Aciduria Encephalopathy

     
  6. Malonic Aciduria: Malonyl-CoA Decarboxylase Deficiency


     

 

Ziekten van het propionaat en methylmalonaat metabolisme:

 

De propion-acidemieŽn:

 

  1. Propionicacidemia  ( Propion-acidemie )

    Synoniemen:  Propionyl-CoA-Carboxylase Deficiency;  PCC Deficiency;  Ketotic Glycinemia; Hyperglycinemia with Ketoacidosis and Leukopenia;  Ketotic Hyperglycinemia

    OMIM:  606054


    OMIM: Clinical Synopsis

    e-Medicine: Propionic Acidemia (Propionyl CoA Carboxylase Deficiency)

    ExPASy: Propionyl-CoA carboxylase;  EC 6.4.1.3

    Enzym synoniemen: PCCase

    ATP  +  propanoyl-CoA +  HCO3-   < = >  ADP +  phosphate +  (S)-methylmalonyl-CoA  


            
      
  2. Multiple Carboxylase Deficiency  ( MCD )

    Synoniemen:  Holocarboxylase Synthetase Deficiency;  HLCS Deficiency; Multiple Carboxylase Deficiency, Neonatal Form

    OMIM:  253270


    OMIM: Clinical Synopsis

    e-Medicine: Holocarboxylase Synthetase Deficiency

    ExPASy: Biotin--[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase;   EC  6.3.4.10

    Enzym synoniemen: Biotin--[propionyl-CoA-carboxylase (ATP-hydrolyzing)] synthetase; Propionyl-CoA holocarboxylase synthetase;  Holocarboxylase synthetase

    ATP +  biotin  +  apo-[propanoyl-CoA:carbon-dioxide ligase (ADP-forming)]  <=>
    AMP  +  diphosphate +  [propanoyl-CoA:carbon-dioxide ligase (ADP-forming)]


     

De methylmalonzuur acidemieŽn:
 

Extra informatie: Methylmalonzuur acidemie

Extra informatie: e-Medicine: Methylmalonic Acidemia

 

  1. Methylmalonicaciduria due to Methylmalonyl CoA Mutase Deficiency

    Synoniemen: Methylmalonic aciduria due to MCM Deficiency; MCM Deficiency; MMA due to MCM deficiency; Complementation Group mut

    OMIM: 251000

    OMIM: Clinical Synopsis

    ExPASy: Methylmalonyl-CoA mutase  EC 5.4.99.2

    Enzym synoniemen: Methylmalonyl-CoA CoA-carbonyl mutase, Methylmalonyl coenzyme A mutase, Methylmalonyl coenzyme A carbonylmutase, (S)-methylmalonyl-CoA mutase, (R)-2-methyl-3-oxopropanoyl-CoA CoA-carbonylmutase.

    (R)-2-methyl-3-oxopropanoyl-CoA < = >  succinyl-CoA

     
  2. Partial deficiency of Methylmalonyl CoA Mutase: cblA, cblB and cblH



    cblA: ( Methylmalonicaciduria, Vitamin B12 responsive, due to defect in synthesis of adenosylcobalamin )

    OMIM: 251100

    OMIM: Clinical Synopsis



    cblB: ( Methylmalonicaciduria, Vitamin B12 responsive, due to defect in synthesis of adenosylcobalamin )

    OMIM: 251110

    OMIM: Clinical Synopsis



    cblH: ( Methylmalonicaciduria, Vitamin B12 responsive, due to defect in synthesis of adenosylcobalamin )

    OMIM:  606169



     
  3. Combined Deficiency of Methylmalonyl CoA Mutase and Methionine Synthase:
    cblC; cblD and cblF


    cblC: Vitamin B12 metabolic defect with methylmalonicacidemia and homocystinuria

    Synoniemen: Combined Deficiency of Methylmalonyl CoA Mutase and Homocysteine: Methyltetrahydrofolate Methyltransferase

    OMIM: 277400


    OMIM: Clinical Synopsis



    cblD: Vitamin B12 metabolic defect, Type II

    Synoniemen: Methylmalonicacidemia and Homocystinuria;  cbl D

    OMIM:  277410


    OMIM: Clinical Synopsis



    cblF:  Vitamin B12 Lysosomal Release Defect

    Synoniemen:  Defect in lysosomal release of cobalamin;  Vitamin B12 storage disease; Cobalamin F disease; Methylmalonicaciduria due to vitamin B12 release defect

    OMIM: 277380


    OMIM: Clinical Synopsis

     

 

 

Organo-acidurie vanwege defecten in de Lysine oxidatie:

 

  1. Glutaricacidemia I    ( glutaar acidurie type 1 )

    Synoniemen: Glutaricaciduria; GA I; Glutaryl-CoA Dehydrogenase Deficiency

    OMIM:  231670

    OMIM:  Clinical Synopsis

    ExPASy: Glutaryl-CoA dehydrogenase  EC 1.3.99.7

    Glutaryl-CoA +  acceptor  < = >  crotonoyl-CoA +  CO2  +  reduced acceptor     


         
     
  2. Ketoadipicaciduria

    OMIM: 245130

    OMIM: Clinical Synopsis
     

 

 

Disorders of the γ-Glutamyl Cycle:

 

  1. 5-Oxoprolinuria

    Synoniemen: Glutathione Synthetase deficiency; Pyroglutamicaciduria

    OMIM: 266130

    OMIM: Clinical Synopsis

    e-Medicine: Glutathione Synthetase Deficiency

    OMIM: Glutathione Synthetase

    ExPASy: Glutathione Synthase;  EC 6.3.2.3

    Synoniemen voor dit enzym: Glutathione synthetase, GSH synthetase

    ATP +  gamma-L-glutamyl-L-cysteine +  glycine  < = >  ADP +  phosphate +  glutathione


     
  2. Hemolytic Anemia due to Glutathione Synthetase Deficiency of  Erythrocytes

    OMIM: 231900

    OMIM: Clinical Synopsis


     
  3. Hemolytic Anemia due to Gamma-Glutamylcysteine Synthetase Deficiency

    OMIM: 230450

    OMIM: Clinical Synopsis

    OMIM: Gamma-glutamylcysteine synthetase

    ExPASy: Glutamate--cysteine ligase   EC 6.3.2.2

    Enzym synoniemen: Gamma-glutamylcysteine synthetase;   Gamma-glutamyl-L-cysteine synthetase

    ATP +  L-glutamate +  L-cysteine  < = >  ADP +  phosphate +  gamma-L-glutamyl-L-cysteine


     
  4. Gluthationuria

    Synoniemen: Gamma-Glutamyl Transpeptidase deficiency;  Gamma-Glutamyl Transferase Deficiency; GGT Deficiency; GGT1 Deficiency; GTG Deficiency

    OMIM: 231950


    OMIM: Clinical Synopsis

    ExPASy: Gamma-glutamyltransferase  EC 2.3.2.2

    Enzym synoniemen: Gamma-glutamyltranspeptidase;  Glutamyl transpeptidase

    (5-L-glutamyl)-peptide +  an amino acid  <=>  peptide +  5-L-glutamyl-amino acid


     
  5. 5-Oxoprolinase Deficiency

    Synoniemen: Oxoprolinuria due to Oxoprolinase Deficiency

    OMIM:  260005


    OMIM: Clinical Synopsis

 

 

 

Stoornissen van de Glycerol stofwisseling:

 

  1. Hyperglycerolemia

    Synoniemen:  Glycerol Kinase Deficiency;  GK Deficiency;  GKD;  GK1 Deficiency

    OMIM:  307030


    OMIM: Clinical Synopsis

    ExPASy: Glycerol kinase  EC 2.7.1.30

    Enzym synoniemen: Glycerokinase;  ATP:glycerol 3-phosphotransferase

    ATP + glycerol  < = > ADP + glycerol 3-phosphate


     
  2. Glycerol Intolerance Syndrome

 

 

SjŲgren-Larsson Syndrome: Fatty Aldehyde Dehydrogenase Deficiency:

 

  1. SjŲgren - Larsson Syndrome

    Synoniemen: SLS;

    OMIM: 270200

    OMIM: Clinical Synopsis


    Who named it?: Karl Gustaf Torsten SjŲgren Tage Konrad Leopold Larsson
     

 

 

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