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Mitochondrial respiratory chain complex deficiency

MONDO:0000066

A mitochondrial energy metabolism disorder where respiratory complex (I–V) is dysfunctional, typically due to mutations in genes encoding that specific complex’s proteins or assembly factors.

Also known as: isolated oxidative phosphorylation complex disorder, mitochondrial complex deficiency

16 clinical trials for this condition and its sub-types.

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Sub-types

Mitochondrial complex I deficiency (2) Mitochondrial complex IV deficiency, nuclear-type (1) COX deficiency, benign infantile mitochondrial myopathy (0) Leber hereditary optic neuropathy, autosomal recessive (0) Leber-like hereditary optic neuropathy, autosomal recessive 1 (0) Leber-like hereditary optic neuropathy, autosomal recessive 2 (0) Mitochondrial complex 4 deficiency, nuclear type 25 (0) Mitochondrial complex I deficiency, mitochondrial type (0) Mitochondrial complex I deficiency, mitochondrial type 1 (0) Mitochondrial complex I deficiency, nuclear type (0) Mitochondrial complex I deficiency, nuclear type 1 (0) Mitochondrial complex I deficiency, nuclear type 10 (0) Mitochondrial complex I deficiency, nuclear type 11 (0) Mitochondrial complex I deficiency, nuclear type 12 (0) Mitochondrial complex I deficiency, nuclear type 13 (0) Mitochondrial complex I deficiency, nuclear type 14 (0) Mitochondrial complex I deficiency, nuclear type 15 (0) Mitochondrial complex I deficiency, nuclear type 16 (0) Mitochondrial complex I deficiency, nuclear type 17 (0) Mitochondrial complex I deficiency, nuclear type 18 (0)

Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn mitochondrial metabolism disorder (58) Inborn errors of metabolism (45) Mitochondrial disease (40) Human disease (14) Developmental defect during embryogenesis (8) Mitochondrial oxidative phosphorylation disorder (3) Disease of genetic or genomic mechanism (2)

Trials to join now! 6 Not yet recruiting 1 Not yet finished but already full! 5 Completed 3 Terminated 1