Mitochondrial Pyruvate Carrier Deficiency

Description

Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation (summary by Bricker et al., 2012).

Clinical Features

Top most frequent phenotypes and symptoms related to Mitochondrial Pyruvate Carrier Deficiency

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Epicanthus
  • Peripheral neuropathy
  • Hepatomegaly
  • Respiratory distress
  • Long philtrum

And another 12 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Mitochondrial Pyruvate Carrier Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Autosomal Recessive Mitochondrial Pyruvate Carrier Deficiency (MPYCD) via MPC1 (BRP44L) Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

MPC1
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
New Born testing (CentoICU).

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
Mitochondrial pyruvate carrier deficiency.

By Centogene AG - the Rare Disease Company (Germany).

MPC1
Specificity
100 %
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 %
Invitae Pyruvate Dehydrogenase Deficiency Panel.

By Invitae (United States).

LIAS, PDHX, MPC1, DLAT, DLD, PDHA1, PDHB, PDP1
Specificity
13 %
Genes
100 %
MPC1.

By Fulgent Genetics Fulgent Genetics (United States).

MPC1
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TREACHER COLLINS SYNDROME 3; TCS3 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 MYOTUBULAR MYOPATHY WITH ABNORMAL GENITAL DEVELOPMENT ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME; ECTDS CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B

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