Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic; Pckdc

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic; Pckdc

PCK1

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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

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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.

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 Panel complete gene list SLC16A1, SLC2A2, AGL, ENO3, G6PC, SLC37A4, GAA, ALDOA, ALDOB, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, PC, PCK1, PCK2, PFKM, PGAM2, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM 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 Panel complete gene list SLC16A1, SLC2A2, ACSF3, AGL, FBP1, G6PC, SLC37A4, GALT, ALDOB, GYS2, HMGCL, MLYCD, OXCT1, PC, PCK1, PCK2, PGM1, PHKA2, PHKB, PHKG2, ACAT1, PYGL Specificity 5 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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