Mitochondrial Complex Iii Deficiency, Nuclear Type 6; Mc3dn6

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 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Mitochondrial Complex Iii Deficiency, Nuclear Type 6; Mc3dn6

  • Encephalopathy
  • Acidosis
  • Elevated hepatic transaminase
  • Lactic acidosis
  • Hepatic failure
  • Coma
  • Increased serum lactate
  • Progressive neurologic deterioration
  • Hyperammonemia
  • Abnormality of mitochondrial metabolism

And another 5 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

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Mitochondrial Complex Iii Deficiency, Nuclear Type 6; Mc3dn6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mitochondrial Complex III Deficiency Sequencing Panel with CNV Detection (Nuclear Genes).

By PreventionGenetics PreventionGenetics (United States).

BCS1L, UQCRB, UQCRC2, UQCC2, CYC1, TTC19, LYRM7, UQCRQ, UQCC3
Specificity
12 %
Genes
100 %
Mitochondrial Complex III Deficiency via CYC1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CYC1
Specificity
100 %
Genes
100 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB , (...)

View the complete list with 154 more genes
Specificity
1 %
Genes
100 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH (Germany).

RMRP, BCS1L, MRPL3, SACS, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC6A8, BTD , (...)

View the complete list with 260 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1 FANCONI ANEMIA, COMPLEMENTATION GROUP T; FANCT FACTOR XIII, A SUBUNIT, DEFICIENCY OF LETHAL CONGENITAL CONTRACTURE SYNDROME 3; LCCS3 HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE ROBERTS SYNDROME; RBS

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