Stoornissen betreffende vitaminen

Erfelijke stoornissen betreffende het transport en metabolisme van folaat:

1. Methylene-H₄Folate Reductase Deficiency 
   
   Synoniemen: Methylenetetrahydrofolate Reductase deficiency; MTHFR deficiency
   
   OMIM: 236250
   
   OMIM: Clinical Synopsis
   
   
    
2. functional methyltetrahydrofolate (methyl-H₄Folate):homocysteine methyltransferase (methionine synthase) deficiency
   
   Synoniemen: Methylcobalamin deficiency, cblE type
   
   OMIM: 236270
   
   OMIM: Clinical Synopsis
   
   
    
3. Formiminotransferase deficiency
   
   Synoniemen: Glutamate Formiminotransferase Deficiency; Formiminoglutamicaciduria; Figlu-uria
   
   OMIM: 229100
   
   OMIM: Clinical Synopsis
   
   
   
    
4. Hereditary Folate Malabsorption
   
   OMIM: 229050
   
   OMIM: Clinical Synopsis
   
   
   
    
5. Methylcobalamin deficiency, cblG type
   
   OMIM: 250940
   
   OMIM: Clinical Synopsis
   
    

Erfelijke stoornissen betreffende het transport en metabolisme van cobalamine  ( Vitamine B₁₂ ):

A : Combined Adenosylcobalamin and Methylcobalamin  Deficiency:
 

1. Food Cobalamin Malabsorption
   
   
    
2. Intrinsic Factor Deficiency
   
   OMIM: 261000
   
   OMIM: Clinical Synopsis
   
   
    
3. cubilin-protein deficiency
   
   Synoniemen: Enterocyte Cobalamin Malabsorption;  Imerslund-Gräsbeck Syndrome
   
   OMIM: 261100
   
   OMIM: Clinical Synopsis
   
   
    
4. Transcobalamin II Deficiency
   
   OMIM: 275350
   
   OMIM: Clinical Synopsis
   
   
    
5. R-Binder Deficiency
   
   OMIM: 193090
   
   OMIM: Clinical Synopsis
   
    

B : Deficient activity of both methylmalonyl CoA mutase and N⁵-methyltetrahydrofolate:homocysteine

 methyltransferase
 

1. 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
   
   
    
2.  cblD: Vitamin B12 metabolic defect, Type II
   
   Synoniemen: Methylmalonicacidemia and Homocystinuria;  cbl D
   
   OMIM:  277410
   
   OMIM: Clinical Synopsis
   
   
    
3. 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
    

C : Defects in AdoCbl Synthesis : ( AdoCbl = Adenosylcobalamin )

1. cblA: ( Methylmalonicaciduria, Vitamin B12 responsive, due to defect in synthesis of adenosylcobalamin )
   
   OMIM: 251100
   
   OMIM: Clinical Synopsis
   
   
    
2. cblB: ( Methylmalonicaciduria, Vitamin B12 responsive, due to defect in synthesis of adenosylcobalamin )
   
   OMIM: 251110
   
   OMIM: Clinical Synopsis

D : Defects in MeCbl Synthesis : ( MeCbl = Methylcobalamin )

1. cblE : homocystinuria - megaloblastic anemia due to a defect in cobalamin metabolism
   
   OMIM: 236270
   
   OMIM: Clinical Synopsis
   
   
    
2. cblG : homocystinuria - megaloblastic anemia due to a defect in cobalamin metabolism
   
   OMIM: 250940
   
   OMIM: Clinical Synopsis

Stoornissen betreffende de stofwisseling van Biotine:

1. 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)]
   
   
   
    
2. Biotinidase deficiency
   
   OMIM:  253260
   
   OMIM: Clinical Synopsis

 

 

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