Mitochondrial respiratory chain deficiencies (MRCD), including:
Mitochondrial complex I deficiency (MT-C1D);
Complex II deficiency (MT-C2D);
Complex III deficiency (MT-C3D);
Complex IV deficiency (MT-C4D);
Complex V deficiency (MT-ATPSD);
Leigh syndrome (LS);
Kearns-Sayre Syndrome (KSS);
LCHD deficiency (LCHD);
Leber Hereditary Optic Neuropathy (LHON);
Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF);
NARP;
MELAS;
ACAD9 deficiency;
HADH deficiency;
HIBCH deficiency;
GRACILE syndrome;
Spastic ataxia (SPAX);
MPCD

Mitochondrial respiratory chain deficiencies (MRCD) are a group of disorders of adults and children, with highly variable phenotypes that include macrocephaly with progressive leukodystrophy, encephalopathy (including MELAS), cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease and Alzheimer's disease.

Inherited metabolic disease

(MT-C1D) NDUFS1 [HSA:4719] [KO:K03934]
(MT-C1D) NDUFS2 [HSA:4720] [KO:K03935]
(MT-C1D/LS) NDUFS3 [HSA:4722] [KO:K03936]
(MT-C1D/LS) NDUFS4 [HSA:4724] [KO:K03937]
(MT-C1D) NDUFS6 [HSA:4726] [KO:K03939]
(MT-C1D/LS) NDUFS7 [HSA:374291] [KO:K03940]
(MT-C1D/LS) NDUFS8 [HSA:4728] [KO:K03941]
(MT-C1D) NDUFA1 [HSA:4694] [KO:K03945]
(MT-C1D) NDUFA11 [HSA:126328] [KO:K03956]
(MT-C1D/LS) NDUFAF2 [HSA:91942]
(MT-C1D) NDUFAF3 [HSA:25915] [KO:K09008]
(MT-C1D) NDUFAF4 [HSA:29078]
(MT-C1D/LS) NDUFV1 [HSA:4723] [KO:K03942]
(MT-C1D) NDUFV2 [HSA:4729] [KO:K03943]
(MT-C1D) NUBPL [HSA:80224] [KO:K03593]
(MT-C1D/LS) FOXRED1 [HSA:55572]
(MT-C1D) C20orf7 [HSA:79133]
(MT-C1D/LS) C8orf38 [HSA:137682]
(MT-C2D) SDHAF1 [HSA:644096]
(LS) SDHA [HSA:6389] [KO:K00234]
(LS) LRPPRC [HSA:10128]
(MT-C3D/LS/GRACILE) BCS1L [HSA:617] [KO:K08900]
(MT-C3D) UQCRQ [HSA:27089] [KO:K00418]
(MT-C3D) UQCRB [HSA:7381] [KO:K00417]
(MT-C3D) TTC19 [HSA:54902]
(MT-C4D) FASTKD2 [HSA:22868]
(MT-C4D) COX6B1 [HSA:1340] [KO:K02267]
(MT-C4D/LS) COX15 [HSA:1355] [KO:K02259]
(MT-C4D) C2orf64 [HSA:493753]
(MT-ATPSD) ATPAF2 [HSA:91647] [KO:K07556]
(MT-ATPSD) TMEM70 [HSA:54968]
(LS) SURF1 [HSA:6834] [KO:K14998]
(LCHD) HADHA [HSA:3030] [KO:K07515]
(NARP) OPA1 [HSA:4976] [KO:K17079]
(MELAS) TRNL1 [HSA:4567] [KO:K14228]
ACAD9 [HSA:28976] [KO:K15980]
HADH [HSA:3033] [KO:K00022]
HIBCH [HSA:26275] [KO:K05605]
(SPAX4) MTPAP [HSA:55149]
(SPAX5) AFG3L2 [HSA:10939] [KO:K08956]
(LFIT) TRMU [HSA:55687] [KO:K00566]
(MPCD) SLC25A3 [HSA:5250] [KO:K15102]

(MELAS) L-arginin [DR:D02982]
(MELAS) Coenzyme Q10 [DR:D01065]

KSS, LHON, MELAS, and MERRF can be caused by mutation in multiple genes encoded by the mitochondrial genome mtDNA.

PMID:19336460

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Acute infantile liver failure due to mutations in the TRMU gene.

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PMID:17273968 (MPCD)

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