" /> Mitochondrial complex III deficiency, nuclear type 1 - CISMeF





Preferred Label : Mitochondrial complex III deficiency, nuclear type 1;

Symbol : MC3DN1;

CISMeF acronym : MC3DN1;

Type : Phenotype, molecular basis known;

Description : Autosomal recessive mitochondrial complex III deficiency is a severe multisystem disorder with onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development. Visceral involvement, including hepatopathy and renal tubulopathy, may also occur. Many patients die in early childhood, but some may show longer survival (de Lonlay et al., 2001; De Meirleir et al., 2003). - Genetic Heterogeneity of Mitochondrial Complex III Deficiency Mitochondrial complex III deficiency can be caused by mutation in several different nuclear-encoded genes. See MC3DN2 (615157), caused by mutation in the TTC19 gene (613814) on chromosome 17p12; MC3DN3 (615158), caused by mutation in the UQCRB gene (191330) on chromosome 8q; MC3DN4 (615159), caused by mutation in the UQCRQ gene (612080) on chromosome 5q31; MC3DN5 (615160), caused by mutation in the UQCRC2 gene (191329) on chromosome 16p12; and MC3DN6 (615453), caused by mutation in the CYC1 gene (123980) on chromosome 8q24. See also MTYCB (516020) for a discussion of a milder phenotype associated with isolated mitochondrial complex III deficiency and mutations in a mitochondrial-encoded gene.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene (BCS1L, 603647.0001);

Laboratory abnormalities : Increased serum lactate; Abnormal liver function tests; Aminoaciduria; Decreased respiratory chain complex III activity in multiple tissues;

Prefixed ID : #124000;

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27/07/2025


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