Mitochondrial Complex III Deficiency, Nuclear Type 6

Alternative Names

  • MC3DN6

Associated Genes

Cytochrome C1
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WHO-ICD-10 version:2010

Diseases of the nervous system

Diseases of myoneural junction and muscle

OMIM Number

615453

Mode of Inheritance

Autosomal recessive

Gene Map Locus

8q24.3

Description

Mitochondrial complex III deficiency nuclear type 6 (MC3DN6) is an autosomal recessive disorder caused by mitochondrial dysfunction. It is characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615453.1.1LebanonMaleYes Metabolic ketoacidosis; Lactic acidosis...NM_001916.5:c.288G>THomozygousAutosomal, RecessiveGaignard et al. 2013
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