Mitochondriële ziekten

 

Mitochondrien, Historie, De endosymbiose theorie, Het uiterlijk van een mitochondrion, ATP, Vetzuuroxidatie, Carnitine, De verdeling van de enzymen in de mitochondriele compartimenten Mitochondriën

Stoornissen van de citroenzuurcyclus:

 

  1. Fumarase Deficiency  ( fumarase deficiëntie )

    Synoniemen: fumaricaciduria ( fumaarzuur acidurie )

    ExPASy:     EC 4.2.1.2   

    fumarate  +  H2O  <=>     (S)-malate

    OMIM: 606812

    OMIM: Clinical Synopsis

    OMIM: Fumarase Hydratase

     

  2. Dihydrolipoyl dehydrogenase deficiëntie

    ExPASy: Dihydrolipoamide dehydrogenase   EC 1.8.1.4

    Enzym synoniemen: Lipoamide reductase (NADH); E3 component of alpha-ketoacid dehydrogenase complexesLipoyl dehydrogenase; Dihydrolipoyl dehydrogenase; Diaphorase.

    Dihydrolipoamide +  NAD+  <=>  lipoamide +  NADH

     

  3. ά-ketoglutarate dehydrogenase deficiency

    Synoniemen: Alpha-KGD Deficiency, 2-@Ketoglutarate Dehydrogenase Deficiency,
    Oxoglutaricaciduria

    OMIM: 203740

    OMIM: Clinical Synopsis

    ExPASy:   EC 1.8.1.4

    a ketoglutarate + HS CoA + NAD+ <=> Succinyl CoA  + NADH + H+  + CO2 

     

  4. Gecombineerd defect van succinate dehydrogenase en aconitase

 

Lactaat Acidemie ( lactic acidemia ): 

Ziekten van   Pyruvaat Dehydrogenase en Pyruvaat Carboxylase

 

  1. Pyruvate Dehydrogenase Complex, E1-Alpha polypeptide 1;  PDHA1

    Het pyruvaat dehydrogenase complex bestaat uit meerdere kopieën van 3 enzymen :

    pyruvate decarboxylase (E1;     EC 1.2.4.1 ),

    dihydrolipoyl transacetylase (E2;     EC 2.3.1.12 ), 

    dihydrolipoyl dehydrogenase (E3;     EC 1.8.1.4 ).

    e-Medicine:     Pyruvate Dehydrogenase Complex Deficiency

    OMIM: Pyruvate Dehydrogenase Deficiency ; 312170

    OMIM: Clinical Synopsis

     
  2. Pyruvate Decarboxylase Deficiency

    Synoniemen: Intermittent Ataxia with Pyruvate Dehydrogenase or Pyruvate Decarboxylase Deficiency;     Ataxia with Lactic Acidose I;  PDH Deficiency

    OMIM: 312170

    OMIM: Clinical Synopsis

    Expasy: Pyruvate decarboxylase  EC 4.1.1.1

    Enzym Synoniemen: Alpha-carboxylase;  Pyruvic decarboxylase;   Alpha-ketoacid carboxylase.

    A 2-oxo acid <=> an aldehyde  +  CO2

     
  3. Pyruvate Dehydrogenase Phosphatase Deficiency

    ExPASy: [Pyruvate dehydrogenase (lipoamide)]-phosphatase.  EC 3.1.3.43

     
  4. Mitochondrial Phosphoenolpyruvate Carboxykinase 2;  PCK 2 ( PEPCK 2 )

    OMIM: Phosphoenolpyruvate Carboxykinase Deficiency;  PEPCK Deficiency;

    OMIM 261650

    OMIM: Clinical Synopsis

    ExPASy: Phosphoenolpyruvate carboxykinase (GTP).  EC 4.1.1.32

    Enzym Synoniemen: Phosphopyruvate carboxylase; Phosphoenolpyruvate carboxylase; Phosphoenolpyruvate;carboxykinase; PEP carboxykinase; PEPCK.

    GTP +  oxaloacetate <=> GDP +  phosphoenolpyruvate  +  CO2

     
  5. Lactic Acidosis due to Lipoamide Dehydrogenase Deficiency

    Synoniemen: LAD Deficiency;  Congenital Infantile Lactic Acidosis due to LAD Deficiency;Dihydrolipoamide dehydrogenase deficiency; DHLD Deficiency; DLD Deficiency;Maple Sirup Urine Disease Type III;  MSUD Type III.

    OMIM:  246900

    OMIM: Clinical Synopsis

    ExPASy: Dihydrolipoamide dehydrogenase  EC 1.8.1.4

    Enzym Synoniemen: Lipoamide reductase (NADH); E3 component of alpha-ketoacid dehydrogenase complexes; Lipoyl dehydrogenase;  Dihydrolipoyl dehydrogenase;  Diaphorase.

    Dihydrolipoamide +  NAD+  <=>  lipoamide +  NADH

     
  6. Pyruvate Carboxilase Deficiency.

    Synoniemen: PC Deficiency;  Ataxia with lactic acidosis II;  Leigh Syndrome due to Pyruvate Carboxylase Def.; Leigh Necrotizing Encephalopathy due to pyruvate carboxylase deficiency

    OMIM: 266150

    OMIM: Clinical Synopsis

    e-Medicine:     Pyruvate Carboxylase Deficiency

    ExPASy: Pyruvate carboxylase  EC 6.4.1.1

    Enzym Synoniemen: Pyruvic carboxylase

    ATP +  pyruvate +  HCO3-  <=>  ADP +  phosphate +  oxaloacetate

 

Mitochondriële Vetzuur-oxidatie stoornissen  en defecten van de

 bèta-oxidatie spiraal:
 

Stoornissen in de Carnitine cyclus:
 

  1. Carnitine Palmitoyltransferase I  Deficiency

    Synoniemen:  Hypoketotic hypoglycemie with deficiency of carnitine palmitoyltransferase I;  CPT I Deficiency; Hepatic CPT deficiency type I.

    OMIM: 255120

    OMIM: Clinical Synopsis

    Extra informatie: Carnitine palmitoyltransferase stoornissen

    Extra informatie:     The Spiral Notebook

    ExPASy: Carnitine O-palmitoyltransferase  EC 2.3.1.21

    Palmitoyl-CoA +  L-carnitine <=> CoA  +  L-palmitoylcarnitine


     
  2. Carnitine Palmitoyltransferase II  Deficiency  ( Adult onset )

    Synoniemen: Myopathy with deficiency of carnitine palmitoyltransferase II;  Myopathic CPT II deficiency.

    OMIM:  255110

    OMIM: Clinical Synopsis

    Extra informatie: Carnitine palmitoyltransferase stoornissen

    Extra informatie:      The Spiral Notebook

    ExPASy: Carnitine O-palmitoyltransferase  EC 2.3.1.21

    Palmitoyl-CoA +  L-carnitine <=> CoA  +  L-palmitoylcarnitine


     
  3. Carnitine Palmitoyltransferase II  Deficiency  ( Infantile )

    Synoniemen: CPT II deficiency, hepatic; 

    OMIM:  600649

    OMIM: Clinical Synopsis

    Extra informatie: Carnitine palmitoyltransferase stoornissen

    Extra informatie:      The Spiral Notebook

    ExPASy: Carnitine O-palmitoyltransferase  EC 2.3.1.21

    Palmitoyl-CoA +  L-carnitine <=> CoA  +  L-palmitoylcarnitine


     
  4. Carnitine Palmitoyltransferase II  Deficiency  ( Lethal neonatal )

    OMIM: 608836

    OMIM: Clinical Synopsis

    Extra informatie: Carnitine palmitoyltransferase stoornissen

    Extra informatie:      The Spiral Notebook

    ExPASy: Carnitine O-palmitoyltransferase  EC 2.3.1.21

    Palmitoyl-CoA +  L-carnitine <=> CoA  +  L-palmitoylcarnitine


     
  5. Systemic Primary Carnitine Deficiency

    Synoniemen: Systemic carnitine deficiency due to defect in renal reabsorption of carnitine; Primary carnitine deficiency; Deficiency of carnitine transporter, plasma membraneCarnitine uptake defect; CUD

    OMIM: 212140

    OMIM: Clinical Synopsis

    e-Medicine: Carnitine deficiency


     
  6. Carnitine/Acylcarnitine Translocase Deficiency

    Synoniemen: CACT deficiency

    OMIM: 212138

    OMIM: Clinical Synopsis


     
  7. Myopathic Carnitine Deficiency

    OMIM: 212160

    OMIM: Clinical Synopsis

    Extra informatie: e-Medicine: Carnitine deficiency


     
  8. 3-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

    Enzym synoniemen: 3-hydroxy-3-methylglutarate-CoA lyase;  HMG-CoA lyase

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

 

defecten van de bèta-oxidatie spiraal:
 

  1. 2,4-Dienoyl-CoA Reductase Deficiency

    OMIM: 222745

    OMIM: Clinical Synopsis

    ExPASy: 2,4-dienoyl-CoA reductase (NADPH).  EC 1.3.1.34

    Enzym synoniemen: 4-enoyl-CoA reductase (NADPH).

    Trans-2,3-didehydroacyl-CoA +  NADP+ <=>  trans,trans-2,3,4,5-tetradehydroacyl-CoA +  NADPH


     
  2. Short Chain Acyl Co-A Dehydrogenase deficiëntie;   SCAD

    Synoniemen: ACADS Deficiency;  SCADH Deficiency; SCAD Deficiency; Lipid Storage Myopathy secondary to Short Chain Acyl-CoA Dehydrogenase Deficiency.

    OMIM: 201470

    OMIM: Clinical Synopsis

    OMIM: Short Chain Acyl-CoA Dehydrogenase; SCAD; Acyl-CoA Dehydrogenase, C2 to C3 short chain

    Extra informatie : Korte Keten  Acyl-CoA Dehydrogenase Deficiëntie

    ExPASy:     Butyryl-CoA dehydrogenase   EC 1.3.99.2

    Enzym synoniemen: Short-chain acyl-CoA dehydrogenase; Unsaturated acyl-CoA reductase;
    Butyryl dehydrogenase

    Butanoyl-CoA +  ETF  <=> 2-butenoyl-CoA  +  reduced ETF


     
  3. Short Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency; SCHAD

    OMIM: 601609

    ExPASy:       3-hydroxyacyl-CoA dehydrogenase  EC 1.1.1.35

    Enzyn synoniemen:     Beta-hydroxyacyl dehydrogenase; Beta-keto-reductase

    (S)-3-hydroxyacyl-CoA  +  NAD+  <=> 3-oxoacyl-CoA +  NADH


     
  4. Medium Chain Acyl Co-A Dehydrogenase deficiency; MCAD

     Synoniemen: ACADM Deficiency; MCADH Deficiency; Carnitine deficiency secondary to medium-chain Acyl-CoA Dehydrogenase deficiency.

    OMIM: 210450

    OMIM: Clinical Synopsis

    OMIM: Medium-Chain Acyl-CoA Dehydrogenase

    e-Medicine:      Medium-Chain Acyl-CoA Dehydrogenase Deficiency

    GeneReviews:     Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency

    Centers for Disease Control and Prevention: MCADD

    MCAD: Rijks Universiteit Groningen: Factsheet MCAD

    MCAD: MCADAngel

    ExPASy:     Acyl-CoA dehydrogenase  EC 1.3.99.3

    Enzym synoniemen: Medium-chain acyl-CoA dehydrogenase;  Acyl dehydrogenas

    Acyl-CoA +  ETF  <=> 2,3-dehydroacyl-CoA +  reduced ETF


     
  5. Long Chain Acyl Co-A Dehydrogenase deficiëntie; LCAD

     Synoniemen: ACADL deficiency;  Nonketotic Hypoglycemia due to deficiency of Long Chain Acyl-CoA Dehydrogenase

    OMIM: 201460

    OMIM: Clinical Synopsis

    e-Medicine:     Long-Chain Acyl CoA Dehydrogenase Deficiency

    ExPASy: Long-chain acyl-CoA dehydrogenase  EC 1.3.99.13

    Acyl-CoA +  ETF <=> 2,3-dehydroacyl-CoA +  reduced ETF


     
  6. Hydroxyacyl-CoA Dehydrogenase / 3-Ketoacyl-CoA Thiolase / Enoyl-CoA Hydratase; Alpha subunit; HADHA

    Synoniemen: Trifunctional protein, alpha subunit;  Mitochondrial Trifunctional protein, Alpha subunit; Long Chain Hydroxyacyl-CoA Dehydrogenase; LCHAD

    OMIM: 600890     Trifunctional Protein Deficiency, Type I, Included;     Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Included.

    OMIM: Clinical Synopsis

    The Fatty Oxidation Disorders (FOD) Family Support Group™ :  LCHAD

    e-Medicine:     LCHAD deficiency, trifunctional protein deficiency


     
  7. Hydroxyacyl-CoA Dehydrogenase / 3-Ketoacyl-CoA Thiolase / Enoyl-CoA Hydratase; Beta subunit; HADHB

    Synoniemen: Trifunctional Protein, Beta SubunitHydroxyacyl-CoA Dehydrogenase; HADH

    OMIM: 143450     Trifunctional Protein Deficiency, Type II,  included; Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, included; LCHAD Deficiency, included;  3-Hydroxydicarboxylicaciduria, included; Combined enzyme defect of mitochondrial fatty acid oxidation, included.

    OMIM: Clinical Synopsis

    The Fatty Oxidation Disorders (FOD) Family Support Group™ :  LCHAD

    e-Medicine:     LCHAD deficiency, trifunctional protein deficiency

    ExPASy:     Long-chain-3-hydroxyacyl-CoA dehydrogenase  EC 1.1.1.211

    (S)-3-hydroxyacyl-CoA +  NAD+ <=> 3-oxoacyl-CoA +  NADH


     
  8. Very Long Chain Acyl-CoA Dehydrogenase Deficiency; VLCAD

     OMIM: 210475

    OMIM: Clinical Synopsis


     
  9. Glutaric Aciduria Type IIA  ( Glutaar Acidurie Type IIA )

    Synoniemen: GA IIA;  Glutaricacidemia IIA;      Ethylmalonic-Adipicaciduria ( EMA ); Multiple Acyl-CoA Dehydrogenase Deficiency ( MADD ); Deficiency of Elektron Transfer Flavoprotein, Alpha polypeptide; Deficiency of ETFA.

    OMIM: 231680

    OMIM: Clinical Synopsis

    Extra informatie: Glutaar acidurie type II


     
  10. Glutaric Aciduria Type IIB  ( Glutaar Acidurie Type IIB )

    Synoniemen: Elektron Transfer Flavoprotein, beta polypeptide;   GA IIB.

    OMIM: 130410

    Extra informatie: Glutaar acidurie type II


     
  11. Glutaric Aciduria Type IIC  ( Glutaar Acidurie Type IIC )

    Synoniemen:      Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency;  GA IIC;  Glutaricacidemia IIC; Electron transfer flavoprotein: Dehydrogenase Deficiency.

    OMIM: 23167

    OMIM: Clinical Synopsis

    ExPASy:     Electron-transferring-flavoprotein dehydrogenase   EC 1.5.5.1

    Enzym synoniemen: Electron transfer flavoprotein-ubiquinone oxidoreductase; ETF-QO; ETF-ubiquinone oxidoreductase; ETF dehydrogenase

    Reduced ETF + ubiquinone = ETF + ubiquinol

    Extra informatie: Glutaar acidurie type II

 

 

Mitochondrial Porin

Mitochondriële Porine

VDAC: Voltage Dependent Anion Channel

Voltage Afhankelijk Anion Kanaal

 

Meer informatie: VDAC Web Page

Meer informatie: Structure of the voltage dependent, ion selective channel (VDAC)

 

  1. Voltage-Dependent Anion Channel 1; VDAC1

    OMIM: Voltage Dependent Anion Channel Deficiency ( VDAC Deficiency )


     

  2. Voltage-Dependent Anion Channel 2; VDAC2

    OMIM: Voltage-Dependent Anion Channel 2; VDAC2

 

 

 

Stoornissen van de Ketonlichamen stofwisseling:

 

  1. Mitochondrial HMG-CoA synthase deficiency

    OMIM: 600234


     
  2. 3-hydroxy-3-methylglutaryl CoA lyase deficiency

    Synoniemen: HMG-CoA Lyase deficiency;   HL deficiency;   Hydroxymethylglutaric aciduria

    OMIM: 246450

    OMIM: Clinical Synopsis

    ExPASy: EC 4.1.3.4   Hydroxymethylglutaryl-CoA lyase

    Synoniemen: 3-hydroxy-3-methylglutarate-CoA lyase;   HMG-CoA lyase


     
  3. R-3-hydroxybutyrate deficiency


     
  4. Succinyl-CoA:3-oxoacid CoA transferase deficiency  ( SCOT deficiency )

    Synoniemen: Ketoacidosis due to SCOT deficiency

    OMIM: 245050

    OMIM: Clinical Synopsis


     
  5. Alpha-methylacetoaceticaciduria  ( Mitochondrial acetoacetyl-CoA thiolase deficiency )

    Synoniemen:  ; T2 deficiency;  MAT deficiency;  Beta ketothiolase deficiency; 2-methyl-3-hydroxybutyric acidemia; 3-oxothiolase deficiency; 

    OMIM: 203750

    OMIM: Clinical Synopsis

 

 

Ziekten van de Oxidatieve Fosforylering      

De ademhalingsketen defecten:

( indeling van de ziektes naar de verschillende complexen )

 

  1. Deficiency of Mitochondrial Respiratory Chain Complex I 

    ( Mitochondriële Ademhalingsketen Complex I deficiëntie )

    Synoniemen: NADH: Q ( I ) Oxidoreductase Deficiency;  Mitochondrial Complex I Deficiency; Deficiency of Mitochondrial NADH Dehydrogenase Component of Complex I; Mitohondrial Myopathy with deficiency of respiratory chain NADH-CoQ Reductase activity.

    OMIM: 252010

    OMIM: Clinical Synopsis

    Extra Informatie:     Complex I Homepage

    ExPASy:     NADH dehydrogenase (ubiquinone).  EC 1.6.5.3

    Enzym synoniemen: Ubiquinone reductase; Type 1 dehydrogenase; Complex 1 dehydrogenase; Coenzyme Q reductase; Complex I (electron transport chain); Complex I (mitochondrial electron transport);  Complex I (NADH:Q1 oxidoreductase); Dihydronicotinamide adenine dinucleotide-coenzyme Q reductase; DPNH-coenzyme Q reductase; DPNH-ubiquinone reductase; Mitochondrial electron transport complex 1; Mitochondrial electron transport complex I; NADH coenzyme Q1 reductase; NADH-coenzyme Q oxidoreductase. NADH-coenzyme Q reductase; NADH-CoQ oxidoreductase; NADH-CoQ reductase. NADH-ubiquinone reductase; NADH-ubiquinone oxidoreductase; NADH-ubiquinone-1 reductase. Reduced nicotinamide adenine dinucleotide-coenzyme Q reductase; NADH:ubiquinone oxidoreductase complex. NADH-Q6 oxidoreductase; Electron transfer complex I

    NADH +  ubiquinone <=>  NAD+  +  ubiquinol


     
  2. Deficiency of Mitochondrial Respiratory Chain Complex II 

    ( Mitochondriële Ademhalingsketen Complex II deficiëntie )

    Synoniemen:   Succinate-CoQ reductase deficiëntie  

    OMIM: 252011

    OMIM: Clinical Synopsis

    ExPASy:  Succinate dehydrogenase (ubiquinone).  EC 1.3.5.1

    Enzym Synoniemen: Succinic dehydrogenase    

    Succinate  +  ubiquinone <=>  fumarate  +  ubiquinol


     
  3. Deficiency of Mitochondrial Respiratory Chain Complex III  

    ( Mitochondriële Ademhalingsketen Complex III  deficiëntie )

    Synoniemen:     Cytochrome related disease of muscle and nervous system

    OMIM: 124000

    OMIM: Clinical Synopsis

    ExPASy: Ubiquinol--cytochrome c reductase  EC  1.10.2.2

    Enzym synoniemen: Ubiquinone-cytochrome c oxidoreductase; Cytochrome bc1 complex.; Complex III (mitochondrial electron transport).

    QH2  +  2 ferricytochrome c  <=> Q  +  2 ferrocytochrome c


     
  4. Deficiency of Mitochondrial Respiratory Chain Complex IV  

    ( Mitochondriële Ademhalingsketen Complex IV  deficiëntie )

    Synoniemen: Cytochroom c oxidase deficiency ;  COX deficiency

    OMIM: 220110

    OMIM: Clinical Synopsis

    Extra Informatie: Cytochroom Oxidase Homepage

    WebMD: cytochrome c oxidase deficiency ;

    NORD: cytochrome c oxidase deficiency

    ExPASy: Cytochrome-c oxidase.  EC 1.9.3.1

    Enzym synoniemen: Cytochrome oxidase; Cytochrome a(3); Cytochrome aa(3);Warburg's respiratory enzyme; Complex IV (mitochondrial electron transport).

    4 ferrocytochrome c + O2  <=> 4 ferrocytochrome c + H2O


     
  5. ATPase deficiency.

    ( Mitochondriële Ademhalingsketen Complex V deficiëntie )

    Synoniemen: ATP Synthase Deficiency

    OMIM:  604273

    ExPASy: H(+)-transporting two-sector ATPase.   EC 3.6.3.14  Formerly EC 3.6.1.34

    Enzym synoniemen: ATP synthase;  F(1)-ATPase;  F(0)F(1)-ATPase;  H(+)-transporting ATP synthase;H(+)-transporting ATPase;  Mitochondrial ATPase;  Chloroplast ATPase.

    ATP +  H2O  +  H+ (In)  <=> ADP +  phosphate +  H+ (Out)

 

Ziekten van de Oxidatieve Fosforylering:

 

De ademhalingsketen defecten:

 

( Indeling van de ziektes als verschillende syndromen )

 

  1. Alpers progressive sclerosing poliodystrophy

    OMIM: 203700

    OMIM: Clinical Synopsis

    NINDS:     Alpers' disease

    Who named it?:     Bernard Jacob Alpers


     
  2. Barth syndrome

     Synoniemen: Cardioskeletal Myopathy with Neutropenia and abnormal mitochondria,  MGA Type II;
    3-α-Methylglutaconicaciduria Type II

    OMIM: 302060

    OMIM: Clinical Synopsis

    Extra Informatie:     Barth Syndroom

     
  3. Friedreich ataxia (FRDA).

    OMIM: 229300

    OMIM: Clinical Synopsis

    GeneReviews: Friedreich ataxia

    e-Medicine: Friedreich ataxia

    Who named it?: Nikolaus Friedreich



     
  4. Hereditary spastic paraplegia (HSP).

    e-Medicine:  Hereditary Spastic Paraplegia

    GeneReviews: Hereditary Spastic Paraplegia



     
  5. Kearns-Sayre syndrome (KSS).

    Synoniemen: Ophthalmoplegia, pigmentary degeneration of the retina, and cardiomyopathy; Oculocraniosomatic syndrome; Ophtalmoplegia-Plus syndrome; Mitochondrial Cytopathy

    OMIM: 530000

    OMIM: Clinical Synopsis

     e-Medicine: Kearns - Sayre Syndrome ( KSS )

    NINDS: Kearns-Sayre

    Who named it?:      Thomas P. Kearns  ;  George P. Sayre


     
  6. Leber hereditary optic neuroretinopathy (LHON).

    OMIM: 535000

    OMIM: Clinical Synopsis

    GeneReviews: Leber Hereditary Optic Neuropathy

     Who named it?: Theodor Karl Gustav von Leber


     
  7. Leigh subacute necrotizing encephalomyopathy

    Synoniemen: Leigh Syndrome;  LS

    OMIM: 256000

    OMIM: Clinical Synopsis

    Extra informatie: Ziekte van Leigh

    GeneReviews:  Mitochondrial DNA-associated (mtDNA-associated) Leigh syndrome and NARP


     
  8. Mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS).

    OMIM: 540000

    OMIM: Clinical Synopsis

    e-Medicine: MELAS Syndrome

    GeneReviews: MELAS

    MedicineNet: MELAS

     
  9. Mitochondrial myopathy, peripheral neuropathy, gastrointestinal, and encephalopathy disease (MNGIE).

    OMIM: 603041

    Orphanet: MNGIE



     
  10. Mohr-Tranebjaerg syndrome (DFN1).

    Synoniemen: Dystonia-Deafness Syndrome;  DDS;  Deafness-Dystonia-Optic atrophy syndrome; DDP

    OMIM: 304700

    OMIM: Clinical Synopsis

    OMIM: 300356 TIMM8A

    GeneReviews: Deafness and Hereditary Hearing Loss Overview

    GeneReviews: Mohr-Tranebjaerg syndrome



     

  11. Myoclonic epilepsy with ragged red fibers (MERRF).

    OMIM: 545000

    OMIM: Clinical Synopsis

    GeneReviews: MERRF

    Extra informatie: MERRF



     
  12. Neurogenic muscle weakness, ataxia, retinitis pigmentosa (NARP).

    OMIM: 551500

    OMIM: Clinical Synopsis

     GeneReviews:  Mitochondrial DNA-associated (mtDNA-associated) Leigh syndrome and NARP

    Orphanet: Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP)


     
  13. Pearson syndrome

    Synoniemen: Sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

    OMIM: 557000

    OMIM: Clinical Synopsis

    e-Medicine:  Pearson Syndrome



     
  14. Progressive external ophthalmoplegia (PEO).

    OMIM: 157640

    OMIM: Clinical Synopsis



     
  15. Syndromic forms of sensorineural hearing loss



     
  16. Wolfram syndrome

    Synoniemen: 

    ► Diabetes insipidus and mellitus with optic atrophy and deafness;

    ► DIDMOAD Syndrome

    OMIM: 598500

    OMIM: Clinical Synopsis

    Extra informatie: Worldwide Society of Wolfram Syndrome Families



 

 

 

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