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Isolated complex I deficiency
Disease definition
Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).
ORPHA:2609
Classification level: Disorder- Synonym(s):
- Isolated NADH-CoQ reductase deficiency
- Isolated NADH-coenzyme Q reductase deficiency
- Isolated NADH-ubiquinone reductase deficiency
- Isolated mitochondrial respiratory chain complex I deficiency
- Prevalence: Unknown
- Inheritance: Autosomal recessive or X-linked dominant or Mitochondrial inheritance
- Age of onset: All ages
- ICD-10: G71.3
- ICD-11: 5C53.2Y
- OMIM: 252010 301020 301021 618222 618224 618225 618226 618228 618229 618230 618232 618233 618234 618236 618237 618238 618240 618241 618242 618245 618246 618250 618251 618253 618776 619003 619170 619272 620135
- UMLS: C1838979
- MeSH: C537475
- GARD: 3908
- MedDRA: -
A summary on this disease is available in Deutsch (2016) Español (2016) Français (2016) Italiano (2016) Nederlands (2016)
Detailed information
Guidelines
- Clinical practice guidelines
- Deutsch (2009) - AWMF
- English (2017) - Neuromuscul Disord
- English (2017) - Genet Med


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.