Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic; Pckdc

Description

Cytosolic phosphoenolpyruvate carboxykinase deficiency causes a defect in gluconeogenesis that results in a 'biochemical signature' of fasting hypoglycemia with high tricarboxylic acid cycle intermediate excretion, particularly of fumarate. Other biochemical anomalies that may be seen during metabolic crisis include ketonuria, dicarboxylic aciduria, and urea cycle dysfunction (Vieira et al., 2017).See PCKDM (OMIM ) for a discussion of mitochondrial PCK (PEPCK2 ) deficiency.

Clinical Features

Top most frequent phenotypes and symptoms related to Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic; Pckdc

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Hepatomegaly
  • Fever
  • Optic atrophy

And another 40 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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, Cytosolic; Pckdc Is also known as pepck deficiency, cytosolic, pck1 deficiency, cytosolic.

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.

Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic; Pckdc Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PCK1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

PCK1
Specificity
100 %
Genes
100 %
Glycogen Storage Disease Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SLC16A1, SLC2A2, AGL, FBP1, G6PC, SLC37A4, GAA, GBE1, GYS2, PCK1, PFKM, PHKA1, PHKA2, PHKB, PHKG2, ACAT1, PYGL
Specificity
6 %
Genes
100 %
Glycogen Storage Disease Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SLC16A1, SLC2A2, AGL, FBP1, G6PC, SLC37A4, GAA, GBE1, GYS2, PCK1, PFKM, PHKA1, PHKA2, PHKB, PHKG2, ACAT1, PYGL
Specificity
6 %
Genes
100 %
Glycogen Storage Disease Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SLC16A1, SLC2A2, AGL, FBP1, G6PC, SLC37A4, GAA, GBE1, GYS2, PCK1, PFKM, PHKA1, PHKA2, PHKB, PHKG2, ACAT1, PYGL
Specificity
6 %
Genes
100 %
Glycogen storage disease (NGS panel for 13 genes).

By CGC Genetics (Portugal).

SLC2A2, AGL, FBP1, G6PC, SLC37A4, GAA, GBE1, GYS2, PCK1, PHKA2, PHKB, PHKG2, PYGL
Specificity
8 %
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 %
Cytosolic Phosphoenolpyruvate Carboxykinase 1 Deficiency via PCK1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

PCK1
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 %

You can get up to 10 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2