Stoornissen in de purine en pyrimidine stofwisseling

 

 

 

 

Lesch-Nyhan Disease and Its Variants

 

  1. Hypoxanthine guanine fosforibosyltransferase deficiency

    Synoniemen: HPRT; HPGRT

    OMIM: 308000


    ExPASy: EC 2.4.2.8  Hypoxanthine phosphoribosyltransferase

    Synoniemen: Hypoxanthine-guanine phosphoribosyltransferase, HGPRTase, IMP pyrophosphorylase, IMP diphosphorylase, Transphosphoribosidase, Guanine phosphoribosyltransferase


     
  2. Lesch-Nyhan syndrome

    Synoniemen: Hypoxanthine phosphoribosyltransferase I Deficiency

    OMIM: 300322

    OMIM: Clinical Synopsis

    Who named it?: Michael Lesch,   William Leo Nyhan


     
  3. Gout

    OMIM: 138900

    OMIM: Clinical Synopsis
     

 

 

Adenine Phosphoribosyltransferase Deficiency and 2,8-Dihydroxyadenine Lithiasis

 

  1. APRT Deficiency, Type I   ( Adenine phosphoribosyltransferase deficiency )

    OMIM: 102600

    OMIM: Clinical Synopsis


    ExPASy: EC 2.4.2.7  Adenine phosphoribosyltransferase

    Synoniemen voor dit enzym: AMP pyrophosphorylase, AMP diphosphorylase, Transphosphoribosidase, APRT.

    AMP +  diphosphate <=> adenine +  5-phospho-alpha-D-ribose 1-diphosphate


     
  2. APRT Deficiency, Type II   ( Urolithiasis, 2,8-dihydroxyadenine )

    OMIM: 102600

    OMIM: Clinical Synopsis


    ExPASy: EC 2.4.2.7  Adenine phosphoribosyltransferase

    Synoniemen voor dit enzym: AMP pyrophosphorylase, AMP diphosphorylase, Transphosphoribosidase, APRT.

    AMP +  diphosphate <=> adenine +  5-phospho-alpha-D-ribose 1-diphosphate


     
  3. Combined APRT and GALNS Deficiency

 

 

ImmunodeficiŽntie ziekten veroorzaakt door Adenosine Deaminase DeficiŽntie en Purine Nucleoside   Phosphorylase DeficiŽntie:

 

  1. ADA Deficiency

    OMM: 102700

    OMIM: Clinical Synopsis


    ExPASy: EC 3.5.4.4   Adenosine deaminase


     
  2. Purine nucleoside phosphorylase deficiency

    OMIM: 164050

    OMIM: Clinical Synopsis


    ExPASy: EC 2.4.2.1  Purine-nucleoside phosphorylase

    Enzym synoniemen: Inosine phosphorylase, PNPase

     

 

Myoadenylate Deaminase Deficiency :

 

  1. Myoadenylate deaminase deficiency

    OMIM: 102770

    OMIM: Clinical Synopsis


    ExPASy: EC 3.5.4.6  AMP deaminase

    Synoniemen: Myoadenylate deaminase, AMP aminase, Adenylic acid deaminase, Adenylate deaminase, 5-AMP deaminase, AMP aminohydrolase

    AMP +  H2O <=> IMP +  NH3


     

 

Adenylosuccinate Lyase Deficiency:

 

  1. Adenylosuccinase deficiency

    Synoniemen: Adenylosuccinate lyase deficiency

    OMIM: 103050

    OMIM: Clinical Synopsis


    ExPASy: EC 4.3.2.2  Adenylosuccinate lyase

    Synoniemen voor dit enzym: Adenylosuccinase, Succino AMP-lyase

 

 

Hereditary Orotic Aciduria and Other Disorders of Pyrimidine Metabolism

 

  1. Oroticaciduria I

    Synoniemen: OROTIDYLIC PYROPHOSPHORYLASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY, OROTATE PHOSPHORIBOSYLTRANSFERASE AND OMP DECARBOXYLASE DEFICIENCY, OPRT AND OMP DECARBOXYLASE DEFICIENCY, URIDINE MONOPHOSPHATE SYNTHASE DEFICIENCY. UMP SYNTHASE DEFICIENCY, UMPS DEFICIENCY

    OMIM: 258900

    OMIM: Clinical Synopsis



     
  2. Oroticaciduria II

    Synoniemen: orotidylic decarboxylase deficiency, OMP decarboxylase deficiency

    OMIM: 258920

    OMIM: Clinical Synopsis


    ExPASy: EC 4.1.1.23   Orotidine-5'-phosphate decarboxylase

    Enzym synoniemen: Orotidylic decarboxylase, OMP decarboxylase, OMPdcase, Uridine 5'-monophosphate synthase, UMP synthase

    Orotidine 5'-phosphate <=> UMP +  CO2


     
  3. Uridine 5-prime monophosphate hydrolase deficiency

    Synoniemen: pyrimidine 5-prime nucleotidase deficiency, P5N deficiency, UMPHI deficiency

    OMIM: 266120

    OMIM: Clinical Synopsis



     
  4. Dihydropyrimidine dehydrogenase deficiency

    OMIM: 274270

    OMIM: Clinical Synopsis


    ExPASy: EC 1.3.1.2    Dihydropyrimidine dehydrogenase

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

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


     
  5. Dihydropyrimiduria

    Synoniemen: dihydropyrimidinase deficiency

    OMIM: 222748

    OMIM: Clinical Synopsis

    ExPASy:
    EC 3.5.2.2   Dihydropyrimidinase

    Synoniemen: Hydantoinase

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


     
  6. Phosphoribosylpyrophosphate synthetase deficiency

    Synoniemen: Pyrimidine 5′nucleotidase superactivity

    OMIM: 311850

    OMIM: Clinical Synopsis


    ExPASy: EC 2.7.6.1  
    Ribose-phosphate diphosphokinase

    Synoniemen: Ribose-phosphate pyrophosphokinase, Phosphoribosyl pyrophosphate synthetase, Phosphoribosyl diphosphate synthetase

    ATP +  D-ribose 5-phosphate <=> AMP +  5-phospho-alpha-D-ribose 1-diphosphate


     
  7. Thymidine phosphorylase deficiency

    Synoniemen:
    mitochondrial myoneurogastrointestinal encephalopathy ( MNGIE ),

    OMIM: 603041


     
  8. Hyper-beta-aminoisobutyricaciduria

    OMIM: 210100

    OMIM: Clinical Synopsis

    ExPASy: EC 2.6.1.40  (R)-3-amino-2-methylpropionate--pyruvate transaminase

    Synoniemen: (R)-3-amino-2-methylpropionate--pyruvate aminotransferase, D-3-aminoisobutyrate--pyruvate aminotransferase, Beta-aminoisobutyrate--pyruvate transaminase

    (R)-3-amino-2-methylpropanoate +  pyruvate <=> 2-methyl-3-oxopropanoate +  L-alanine
     

 

 

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