Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial; Pckdm

Clinical Features

Phenotypes and symptoms related to Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial; Pckdm

  • Acidosis
  • Hypoglycemia
  • Lactic acidosis
  • Hepatic failure
  • Hepatic steatosis
  • Renal steatosis
  • Impaired gluconeogenesis

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.

Alternative names

Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial; Pckdm Is also known as pepck2 deficiency, pck2 deficiency.

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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Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial; Pckdm Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication).

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SUOX, SURF1, TAZ, TWNK, TIMM8A , (...)

View the complete list with 130 more genes
Specificity
1 %
Genes
100 %
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC16A1, SLC2A2, AGL, ENO3, G6PC, SLC37A4, GAA, ALDOA, ALDOB, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, PC, PCK1, PCK2, PFKM, PGAM2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Mitochondrial Phosphoenolpyruvate Carboxykinase 2 Deficiency via PCK2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

PCK2
Specificity
100 %
Genes
100 %
Metabolic Hypoglycemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC16A1, SLC2A2, ACSF3, AGL, FBP1, G6PC, SLC37A4, GALT, ALDOB, GYS2, HMGCL, MLYCD, OXCT1, PC, PCK1, PCK2, PGM1, PHKA2, PHKB, PHKG2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Comprehensive mitochondrial disorders panel.

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

RNASEL, BCS1L, MRPL3, SARDH, SCO1, SCO2, SCP2, SDHA, SDHB, SDHC, SDHD, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC9A6, SOD2, SPG7, STAR , (...)

View the complete list with 156 more genes
Specificity
1 %
Genes
100 %
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial.

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

PCK2
Specificity
100 %
Genes
100 %
AllNeuro panel.

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

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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