Mitochondrial complex III deficiency, nuclear type 6

Preferred Label : Mitochondrial complex III deficiency, nuclear type 6;

Symbol : MC3DN6;

CISMeF acronym : MC3DN6;

Type : Phenotype, molecular basis known;

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. Laboratory studies show decreased activity of mitochondrial complex III. Psychomotor development is normal (summary by Gaignard et al., 2013). For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (124000).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cytochrome C1 gene (CYC1, 123980.0001);

Laboratory abnormalities : Abnormal liver enzymes, episodic; Increased serum lactate; Hyperammonemia, episodic; Decreased mitochondrial complex III activity (in liver, muscle, and fibroblasts);

Prefixed ID : #615453;

Details

Origin ID

615453;

UMLS CUI

C3809553;

Currated CISMeF NLP mapping
- mitochondrial complex III deficiency nuclear type 6 [DO Concept]
DO Cross reference
- mitochondrial complex III deficiency nuclear type 6 [DO Concept]
Genes related to phenotype
- Cytochrome c1 [OMIM gene]
HPO term(s)
- Acute hepatic failure [HPO term]
- Autosomal recessive inheritance [HPO term]
- Elevated hepatic transaminase [HPO term]
- Encephalopathy [HPO term]
- Episodic ketoacidosis [HPO term]
- Hyperammonemia [HPO term]
- Increased serum lactate [HPO term]
- Ketoacidosis [HPO term]
- Lactic acidosis [HPO term]
ORDO concept(s)
- Isolated complex III deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mitochondrial complex III deficiency nuclear type 6 [DO Concept]

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