Orphanet: Isolated complex I deficiency

(*) Required fields.

You are (*)

If you have selected the “Other” category, please specify which type of user you are: *

Email address: *

Topic of your comment *

Epidemiology data

Clinical signs

Nomenclature and/or coding

Your message *

(3000 characters remaining)

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Check this box if you wish to receive a copy of your message

Please reproduce the text below: *

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: -

The portal for rare diseases and orphan drugs

Search for a rare disease

Other search option(s)

Topic of your comment *

Your message *

Attention

Isolated complex I deficiency

ORPHA:2609

A summary on this disease is available in Deutsch (2016) Español (2016) Français (2016) Italiano (2016) Nederlands (2016)

Guidelines

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services