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

Immunodeficiëntie ziekten veroorzaakt door Adenosine Deaminase Deficiëntie en Purine Nucleoside   Phosphorylase Deficiëntie:

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
    

	Purine metabolism
	Defects in the metabolism of purines and pyrimidines ( .pdf !! )
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