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Tillståndsrapport · Metabolism

Mitokondriesjukdom

En grupp ärftliga sjukdomar som försämrar mitokondrierna, cellernas energiproducerande strukturer. De orsakas av varianter i kärngener, till exempel POLG, eller i mitokondrie-DNA. Leighs syndrom och ärftliga optikusneuropatier behandlas i egna rapporter.

En tillståndsrapport söker efter sällsynta varianter som är kända för att orsaka de tillstånd rapporten omfattar.

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De 9 tillstånd vi analyserar

Brist på mitokondriella andningskedjekomplex

Isolerad brist på komplex I, II, III, IV eller V, orsakad av varianter i kärngener eller mitokondriella gener. Den kan påverka hjärnan, musklerna, hjärtat, levern och andra organ med högt energibehov.

Vad en diagnos förändrar

Kunskapen kan avsluta en diagnostisk sökning och vägleda uppföljning av drabbade organ och undvikande av läkemedel som är toxiska för mitokondrierna.

Analyserade gener

Även känd som

isolated oxidative phosphorylation complex disorder; mitochondrial complex deficiency

Inkluderar 93 relaterade undertyper ↓
  • acyl-CoA dehydrogenase 9 deficiency
  • cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
  • cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
  • cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
  • cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
  • congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
  • COX deficiency, benign infantile mitochondrial myopathy
  • Leber hereditary optic neuropathy, autosomal recessive
  • Leber-like hereditary optic neuropathy, autosomal recessive 1
  • Leber-like hereditary optic neuropathy, autosomal recessive 2
  • mitochondrial complex 1 deficiency, nuclear type 35
  • mitochondrial complex 4 deficiency, nuclear type 25
  • mitochondrial complex I deficiency
  • mitochondrial complex I deficiency, mitochondrial type
  • mitochondrial complex I deficiency, mitochondrial type 1
  • mitochondrial complex I deficiency, nuclear type
  • mitochondrial complex I deficiency, nuclear type 1
  • mitochondrial complex I deficiency, nuclear type 10
  • mitochondrial complex I deficiency, nuclear type 11
  • mitochondrial complex I deficiency, nuclear type 12
  • mitochondrial complex I deficiency, nuclear type 13
  • mitochondrial complex I deficiency, nuclear type 14
  • mitochondrial complex I deficiency, nuclear type 15
  • mitochondrial complex I deficiency, nuclear type 16
  • mitochondrial complex I deficiency, nuclear type 17
  • mitochondrial complex I deficiency, nuclear type 18
  • mitochondrial complex I deficiency, nuclear type 19
  • mitochondrial complex I deficiency, nuclear type 2
  • mitochondrial complex I deficiency, nuclear type 21
  • mitochondrial complex I deficiency, nuclear type 22
  • mitochondrial complex I deficiency, nuclear type 23
  • mitochondrial complex I deficiency, nuclear type 24
  • mitochondrial complex I deficiency, nuclear type 25
  • mitochondrial complex I deficiency, nuclear type 26
  • mitochondrial complex I deficiency, nuclear type 27
  • mitochondrial complex I deficiency, nuclear type 28
  • mitochondrial complex I deficiency, nuclear type 29
  • mitochondrial complex I deficiency, nuclear type 3
  • mitochondrial complex I deficiency, nuclear type 30
  • mitochondrial complex I deficiency, nuclear type 31
  • mitochondrial complex I deficiency, nuclear type 32
  • mitochondrial complex I deficiency, nuclear type 33
  • mitochondrial complex I deficiency, nuclear type 34
  • mitochondrial complex I deficiency, nuclear type 36
  • mitochondrial complex I deficiency, nuclear type 37
  • mitochondrial complex I deficiency, nuclear type 39
  • mitochondrial complex I deficiency, nuclear type 4
  • mitochondrial complex I deficiency, nuclear type 5
  • mitochondrial complex I deficiency, nuclear type 6
  • mitochondrial complex I deficiency, nuclear type 7
  • mitochondrial complex I deficiency, nuclear type 8
  • mitochondrial complex I deficiency, nuclear type 9
  • mitochondrial complex III deficiency
  • mitochondrial complex III deficiency nuclear type 1
  • mitochondrial complex III deficiency nuclear type 2
  • mitochondrial complex III deficiency nuclear type 3
  • mitochondrial complex III deficiency nuclear type 4
  • mitochondrial complex III deficiency nuclear type 5
  • mitochondrial complex III deficiency nuclear type 6
  • mitochondrial complex III deficiency nuclear type 7
  • mitochondrial complex III deficiency nuclear type 8
  • mitochondrial complex III deficiency nuclear type 9
  • mitochondrial complex III deficiency, nuclear type
  • mitochondrial complex III deficiency, nuclear type 10
  • mitochondrial complex III deficiency, nuclear type 11
  • mitochondrial complex IV deficiency, nuclear type 1
  • mitochondrial complex IV deficiency, nuclear type 10
  • mitochondrial complex IV deficiency, nuclear type 11
  • mitochondrial complex IV deficiency, nuclear type 12
  • mitochondrial complex IV deficiency, nuclear type 14
  • mitochondrial complex IV deficiency, nuclear type 15
  • mitochondrial complex IV deficiency, nuclear type 16
  • mitochondrial complex IV deficiency, nuclear type 17
  • mitochondrial complex IV deficiency, nuclear type 18
  • mitochondrial complex IV deficiency, nuclear type 19
  • mitochondrial complex IV deficiency, nuclear type 20
  • mitochondrial complex IV deficiency, nuclear type 21
  • mitochondrial complex IV deficiency, nuclear type 22
  • mitochondrial complex IV deficiency, nuclear type 23
  • mitochondrial complex IV deficiency, nuclear type 24
  • mitochondrial complex IV deficiency, nuclear type 3
  • mitochondrial complex IV deficiency, nuclear type 4
  • mitochondrial complex IV deficiency, nuclear type 7
  • mitochondrial complex IV deficiency, nuclear type 8
  • mitochondrial complex IV deficiency, nuclear-type
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 5
  • pancreatic insufficiency-anemia-hyperostosis syndrome
  • renal tubulopathy-encephalopathy-liver failure syndrome
  • SDHC-related Mitochondrial Disease
MONDO:0000066Orphanet 254846MedGen 1843270

Kombinerad brist på oxidativ fosforylering

Sjukdomar, oftast orsakade av kärngener som deltar i produktionen av mitokondrieproteiner. De minskar flera andningskedjekomplex samtidigt och ger ofta allvarlig sjukdom i flera organsystem under barndomen.

Vad en diagnos förändrar

Kunskapen kan avsluta en diagnostisk sökning och vägleda uppföljning och stödjande vård.

Analyserade gener

Inkluderar 70 relaterade undertyper ↓
  • combined oxidative phosphorylation defect type 11
  • combined oxidative phosphorylation defect type 13
  • combined oxidative phosphorylation defect type 14
  • combined oxidative phosphorylation defect type 15
  • combined oxidative phosphorylation defect type 17
  • combined oxidative phosphorylation defect type 2
  • combined oxidative phosphorylation defect type 20
  • combined oxidative phosphorylation defect type 21
  • combined oxidative phosphorylation defect type 23
  • combined oxidative phosphorylation defect type 24
  • combined oxidative phosphorylation defect type 25
  • combined oxidative phosphorylation defect type 26
  • combined oxidative phosphorylation defect type 27
  • combined oxidative phosphorylation defect type 30
  • combined oxidative phosphorylation defect type 4
  • combined oxidative phosphorylation defect type 7
  • combined oxidative phosphorylation defect type 8
  • combined oxidative phosphorylation defect type 9
  • combined oxidative phosphorylation deficiency 19
  • combined oxidative phosphorylation deficiency 22
  • combined oxidative phosphorylation deficiency 28
  • combined oxidative phosphorylation deficiency 29
  • combined oxidative phosphorylation deficiency 32
  • combined oxidative phosphorylation deficiency 33
  • combined oxidative phosphorylation deficiency 34
  • combined oxidative phosphorylation deficiency 35
  • combined oxidative phosphorylation deficiency 36
  • combined oxidative phosphorylation deficiency 37
  • combined oxidative phosphorylation deficiency 38
  • combined oxidative phosphorylation deficiency 39
  • combined oxidative phosphorylation deficiency 40
  • combined oxidative phosphorylation deficiency 41
  • combined oxidative phosphorylation deficiency 42
  • combined oxidative phosphorylation deficiency 43
  • combined oxidative phosphorylation deficiency 44
  • combined oxidative phosphorylation deficiency 45
  • combined oxidative phosphorylation deficiency 46
  • combined oxidative phosphorylation deficiency 47
  • combined oxidative phosphorylation deficiency 48
  • combined oxidative phosphorylation deficiency 49
  • combined oxidative phosphorylation deficiency 50
  • combined oxidative phosphorylation deficiency 51
  • combined oxidative phosphorylation deficiency 52
  • combined oxidative phosphorylation deficiency 53
  • combined oxidative phosphorylation deficiency 54
  • combined oxidative phosphorylation deficiency 55
  • combined oxidative phosphorylation deficiency 56
  • combined oxidative phosphorylation deficiency 57
  • combined oxidative phosphorylation deficiency 58
  • combined oxidative phosphorylation deficiency 59
  • combined oxidative phosphorylation deficiency 60
  • fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
  • growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
  • hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
  • hypotonia with lactic acidemia and hyperammonemia
  • infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
  • lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
  • leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
  • mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1
  • mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 5
  • mitochondrial complex V (ATP synthase) deficiency, nuclear type 7
  • mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • mitochondrial proton-transporting ATP synthase complex deficiency
  • severe X-linked mitochondrial encephalomyopathy
MONDO:0000732MedGen 1626645

Mitokondrie-DNA-depletionssyndrom

Orsakas av varianter i kärngener såsom POLG, TWNK, TK2, DGUOK, MPV17, RRM2B och SUCLA2, som minskar mängden mitokondrie-DNA och kan ge sjukdom i muskler, lever eller hjärna.

Vad en diagnos förändrar

Kunskapen är direkt användbar: valproat måste undvikas vid POLG-sjukdom på grund av risken för dödligt leversvikt, och vid TK2-brist finns en nukleosidbehandling.

Analyserade gener

Även känd som

mtDNA depletion syndrome

Inkluderar 32 relaterade undertyper ↓
  • AFG3L2-related optic atrophy and/or spastic ataxia spectrum
  • mitochondrial DNA deletion syndrome with progressive myopathy
  • mitochondrial DNA depletion syndrome 1
  • mitochondrial DNA depletion syndrome 11
  • mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
  • mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
  • mitochondrial DNA depletion syndrome 13
  • mitochondrial dna depletion syndrome 14A (encephalomyopathic type)
  • mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)
  • mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
  • mitochondrial DNA depletion syndrome 16 (hepatic type)
  • mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
  • mitochondrial DNA depletion syndrome 17
  • mitochondrial DNA depletion syndrome 18
  • mitochondrial DNA depletion syndrome 19
  • mitochondrial DNA depletion syndrome 20 (mngie type)
  • mitochondrial dna depletion syndrome 21
  • mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
  • mitochondrial DNA depletion syndrome 4a
  • mitochondrial DNA depletion syndrome 4b
  • mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
  • mitochondrial DNA depletion syndrome 8a
  • mitochondrial DNA depletion syndrome 9
  • mitochondrial DNA depletion syndrome, encephalomyopathic form
  • mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • mitochondrial DNA depletion syndrome, hepatocerebral form
  • mitochondrial DNA depletion syndrome, hepatocerebrorenal form
  • mitochondrial DNA depletion syndrome, myopathic form
  • optic atrophy 12
  • Sengers syndrome
  • spastic ataxia 5
MONDO:0018158Orphanet 35698MedGen 452449

Progressiv extern oftalmoplegi med deletioner i mitokondrie-DNA

Orsakas av varianter i kärngener såsom POLG, TWNK, SLC25A4 och RRM2B som leder till flera deletioner i mitokondrie-DNA. Det ger hängande ögonlock, svaga ögonrörelser och muskelsvaghet, oftast i vuxen ålder.

Vad en diagnos förändrar

Kunskapen vägleder uppföljning av syn, hjärta och sväljningsfunktion samt undvikande av valproat vid POLG-sjukdom.

Analyserade gener

Även känd som

progressive external ophthalmoplegia with mtDNA deletions

Inkluderar 13 relaterade undertyper ↓
  • autosomal dominant progressive external ophthalmoplegia
  • mitochondrial DNA deletion syndrome with progressive myopathy
  • progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
  • progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
  • progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
  • progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
  • progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
  • progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
  • progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
  • progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
  • progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
  • progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
  • progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6
MONDO:0000090

Ataxi-neuropatispektrum

En POLG- eller TWNK-relaterad sjukdom som ger balans- och koordinationsproblem, skada på sensoriska nerver, problem med ögonrörelser och ibland kramper.

Vad en diagnos förändrar

Kunskapen vägleder behandling av kramper, inklusive att undvika valproat.

Analyserade gener

Inkluderar 3 relaterade undertyper ↓
  • recessive mitochondrial ataxia syndrome
  • sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
  • spinocerebellar ataxia with epilepsy
MONDO:0016798Orphanet 254818MedGen 777176

Kearns-Sayres syndrom

Orsakas vanligen av en enda stor deletion i mitokondrie-DNA. Det ger svaghet i ögonrörelserna, förändringar i näthinnan och problem med hjärtats retledning, typiskt före 20 års ålder.

Vad en diagnos förändrar

Kunskapen möjliggör övervakning av hjärtrytmen och snabb behandling med pacemaker, vilket kan förebygga plötslig död.

Även känd som

CPEO with ragged red fibers; CPEO with ragged red fibres; KSS; ophthalmoplegia plus syndrome; ophthalmoplegia, progressive external, with ragged red fibers; ophthalmoplegia, progressive external, with ragged red fibres

MONDO:0010787OMIM 530000Orphanet 480MedGen 9618

MELAS-syndrom

Mitokondriell

Orsakas vanligen av varianter i mitokondrie-DNA, till exempel m.3243A>G, som kan ge slaganfallsliknande episoder, kramper, muskelsvaghet, hörselnedsättning och diabetes.

Vad en diagnos förändrar

Kunskapen vägleder screening för diabetes, hörsel- och hjärtproblem samt specialistbehandling av slaganfallsliknande episoder.

Även känd som

MELAS; mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes; mitochondrial encephalomyopathy, lactic acidosis and stroke; mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Inkluderar 10 relaterade undertyper ↓
  • MELAS syndrome caused by mutation in MTND1
  • MELAS syndrome caused by mutation in MTND5
  • MELAS syndrome caused by mutation in MTND6
  • MELAS syndrome caused by mutation in MTTC
  • MELAS syndrome caused by mutation in MTTH
  • MELAS syndrome caused by mutation in MTTK
  • MELAS syndrome caused by mutation in MTTL1
  • MELAS syndrome caused by mutation in MTTQ
  • MELAS syndrome caused by mutation in MTTS1
  • MELAS syndrome caused by mutation in MTTS2
MONDO:0010789OMIM 540000Orphanet 550MedGen 56485

MERRF-syndrom

Mitokondriell

Orsakas vanligen av varianter i mitokondrie-DNA, till exempel m.8344A>G, som kan ge muskelryckningar (myoklonus), kramper, balansproblem och muskelsvaghet.

Vad en diagnos förändrar

Kunskapen vägleder val av behandling mot kramper samt uppföljning av hjärta och hörsel.

Analyserade gener

Även känd som

Fukuhara syndrome; MERRF; myoclonic epilepsy - ragged red fibres; myoclonic epilepsy associated with ragged red fibers; myoclonic epilepsy associated with ragged red fibres; myoclonic epilepsy with ragged red fibers; myoclonic epilepsy with ragged red fibres; myoclonus epilepsy and ragged red fibres; myoclonus epilepsy associated with ragged-red fibers; myoclonus epilepsy associated with ragged-red fibres; myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome); myoclonus with epilepsy and with ragged Red fibres; myoclonus with epilepsy and with ragged Red fibres (MERRF syndrome); myoencephalopathy ragged-red fiber disease; myoencephalopathy ragged-red fibre disease

MONDO:0010790OMIM 545000Orphanet 551MedGen 56486

Koenzym Q10-brist

Autosomalt recessiv

Orsakas av varianter i gener som behövs för att bilda koenzym Q10, till exempel COQ2, COQ8A och PDSS2. Det kan ge njursjukdom, balansproblem, muskelsvaghet eller hjärnsjukdom.

Vad en diagnos förändrar

Kunskapen är användbar: primär koenzym Q10-brist kan svara på höga doser koenzym Q10-tillskott, särskilt om behandlingen startas tidigt.

Analyserade gener

Även känd som

coenzyme Q10 deficiency disease; coenzyme Q10 deficiency, primary; CoQ10 deficiency; CoQ10 deficiency, primary

Inkluderar 10 relaterade undertyper ↓
  • autosomal recessive ataxia due to ubiquinone deficiency
  • coenzyme Q10 deficiency, primary, 1
  • coenzyme Q10 deficiency, primary, 3
  • coenzyme q10 deficiency, primary, 9
  • deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • familial steroid-resistant nephrotic syndrome with sensorineural deafness
  • neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • neuronopathy, distal hereditary motor, autosomal recessive 9
  • primary coenzyme Q10 deficiency 8
MONDO:0018151Orphanet 35656MedGen 334528

Begränsningar

  • Varianter i mitokondrie-DNA finns ofta bara i en del av cellerna (heteroplasmi), och låga nivåer i blodet kan missas även när andra vävnader, till exempel muskler, är påverkade. Kopior av mitokondrie-DNA i kärnan (NUMT:er) kan ge falska utslag, och stora deletioner i mitokondrie-DNA kräver specialiserad analys och kanske inte upptäcks.

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