Ziekten van de haem biosynthese:

X-linked Sideroblastic anaemia en de porfyrieën

X-linked sideroblastic anemia:

1. X-linked sideroblastic anemia
   
   Synoniemen: XLSA; ASB; Hypochromic anemia; ANH 1; Hereditary sideroblastic anemia; Hereditary iron-loading anemia
   
   OMIM: 301300
   
   OMIM: Clinical Synopsis
   
   e-Medicine : Iron deficiency anemia
   
   ExPASy: EC 2.3.1.37      5-aminolevulinic acid synthase
   
   Synoniemen voor dit enzym zijn: Delta-aminolevulinate synthase, Delta-ALA synthetase, ALAS.
   
   Succinyl-CoA +  glycine <=> 5-aminolevulinate +  CoA +  CO₂
    

Hepatische Porfyrie:

1. 5-Aminolevulinic acid dehydratase porphyria  ( ADP )
   
   Synoniemen: ALADH
   
   OMIM: 125270
   
   OMIM: Clinical Synopsis
   
   ExPASy: EC 4.2.1.24   Porphobilinogen synthase
   
   Synoniemen voor dit enzym zijn: Delta-aminolevulinic acid dehydratase, Aminolevulinate dehydratase
   
   2 5-aminolevulinate <=> porphobilinogen +  2 H₂O
   
   
    
2. Acute intermittent porphyria  ( AIP )
   
   Synoniemen: Swedish type porphyria;  Porphobilinogen deaminase deficiency; PBGD deficiency; Uroporphyrinogen synthase deficiency;  UPS deficiency
   
   OMIM: 176000
   
   OMIM: Clinical Synopsis
   
   ExPASy: EC 2.5.1.61     Hydroxymethylbilane synthase
   
   Synoniemen voor dit enzym zijn: HMB-synthase,  Porphobilinogen deaminase,  Pre-uroporphyrinogen synthase,  Uroporphyrinogen I synthase,  Uroporphyrinogen I synthetase,  Uroporphyrinogen synthase,  Uroporphyrinogen synthetase
   
   4 porphobilinogen +  H₂O <=> hydroxymethylbilane +  4 NH₃
   
   
    
3. Hereditary coproporphyria (HCP)
   
   Synoniemen: Coproporphyrinogen oxidase deficiency;  CPO deficiency;  CPRO deficiency;   CPX deficiency
   
   OMIM: 121300
   
   OMIM: Clinical Synopsis
   
   ExPASy: EC 1.3.3.3   Coproporphyrinogen oxidase
   
   Synoniemen voor dit enzym zijn: Coproporphyrinogenase, Coproporphyrinogen-III oxidase,  Coprogen oxidase
   
   Coproporphyrinogen-III +  O₂ <=> protoporphyrinogen-IX  +  2 CO₂  +  2 H₂O
   
   
    
4. Porphyria Variegata
   
   Synoniemen: Protoporphyrinogen oxidase deficiency
   
   OMIM: 176200
   
   OMIM: Clinical Synopsis
   
   ExPASY: EC 1.3.3.4   Protoporphyrinogen oxidase
   
   Synoniemen voor dit enzym zijn: Protoporphyrinogen-IX oxidase,  Protoporphyrinogenase
   
   protoporphyrinogen-IX  +  1.5 O₂ <=>  protoporphyrin-IX  +  3 H₂O
   
   
    
5. Porphyria  Cutanea Tarda Type I
   
   Synoniemen: PCT Type I;   PCT Sporadic Type
   
   OMIM: 176090
   
   OMIM: Clinical Synopsis
   
   ExPASy: EC 4.1.1.37    Uroporphyrinogen decarboxylase
   
   Synoniemen voor dit enzym zijn: Uroporphyrinogen III decarboxylase
   
   Uroporphyrinogen-III <=> coproporphyrinogen +  4 CO₂
   
   
    
6. Porphyria  Cutanea Tarda Type II
   
   Synoniemen: PCT;  PCT Type II;  Uroporphyrinogen decarboxylase deficiency;  UROD deficiency
   
   OMIM: 176100
   
   OMIM: Clinical Synopsis
   
   ExPASy: EC 4.1.1.37    Uroporphyrinogen decarboxylase
   
   Synoniemen voor dit enzym zijn: Uroporphyrinogen III decarboxylase
   
   Uroporphyrinogen-III <=> coproporphyrinogen +  4 CO₂
   
   
    
7. Hepatoerythropoietic porphyria ( HEP)
   
   OMIM: 176100
   
   OMIM: Clinical Synopsis

Erythropoiëtische porfyrie:

1. Congenital erythropoietic porphyria  ( CEP )
   
   Synoniemen: Gunther disease;   uroporphyrinogen III synthase deficiency
   
   OMIM: 263700
   
   OMIM: Clinical Synopsis
   
   ExPASy: EC 4.2.1.75  Uroporphyrinogen-III synthase
   
   Synoniemen voor dit enzym zijn: Uroporphyrinogen-III cosynthetase, Uroporphyrinogen-III cosynthase,  Hydroxymethylbilane hydrolyase (cyclizing)
   
   Hydroxymethylbilane <=> uroporphyrinogen-III  +  H₂O
   
   
    
2. Erythropoietic protoporphyria  ( EPP )
   
   Synoniemen: Heme synthetase deficiency;   Ferrochelatase deficiency
   
   OMIM: 177000
   
   OMIM: Clinical Synopsis
   
   ExPASy: EC 4.99.1.1  Ferrochelatase
   
   Synoniemen voor dit enzym zijn: Protoheme ferro-lyase,  Iron chelatase,  Heme synthetase,  Heme synthase
   
   Protoporphyrin +  Fe₂⁺ <=> protoheme +  2 H⁺
   
   
   
    

Aangeboren Geelzucht  en Stoornissen van de  Bilirubine stofwisseling:

1. Crigler-Najjar Syndrome Type I
   
   OMIM: 218800
   
   OMIM: Clinical Synopsis
   
   Who named it?: John Fielding Crigler,   Victor Assad Najjar
   
   ExPASy: EC 2.4.1.17  UDP-glucuronosyltransferase
   
   Synoniemen voor dit enzym zijn: UDPGT
   
   UDP-glucuronate +  acceptor <=> UDP +  acceptor beta-D-glucuronoside
   
   
    
2. Crigler-Najjar Syndrome Type II
   
   OMIM: 606785
   
   OMIM: Clinical Synopsis
   
   Who named it?: John Fielding Crigler,   Victor Assad Najjar
   
   ExPASy: EC 2.4.1.17  UDP-glucuronosyltransferase
   
   Synoniemen voor dit enzym zijn: UDPGT
   
   UDP-glucuronate +  acceptor <=> UDP +  acceptor beta-D-glucuronoside
   
   
    
3. Gilbert Syndrome  ( Hyperbilirubinemia I )
   
   OMIM: 143500
   
   OMIM: Clinical Synopsis
   
   Who named it?: Nicolas Augustin Gilbert
   
   ExPASy: EC 2.4.1.17  UDP-glucuronosyltransferase
   
   Synoniemen voor dit enzym zijn: UDPGT
   
   UDP-glucuronate +  acceptor <=> UDP +  acceptor beta-D-glucuronoside
   
   
    
4. Dubin - Johnson syndrome  ( DJS )  ( Hyperbilirubinemia II  )
   
   OMIM: 237500
   
   OMIM: Clinical Synopsis
   
   OMIM: Multispecific organic anion transporter (cMOAT)
   
   
    
5. Conjugated Hyperbilirubinemia Type III
   
   OMIM: 237550
   
   OMIM: Clinical Synopsis
   
   
    
6. Rotor Syndrome  ( Hyperbilirubinemia, Rotor Type )
   
   OMIM: 237450
   
   OMIM: Clinical Synopsis
   
   Who named it? Arturo Belleza Rotor
   
    
7. Benign Recurrent Intrahepatic Cholestasis      ( Summerskil Syndrome )
   
   Synoniemen:  BRIC
   
   OMIM: 243300
   
   OMIM: Clinical Synopsis

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Laboratoriumdiagnostiek bij porfyrieën: stoornissen in de heemsynthese