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.
Genes related to Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic; Pckdc
- PCK1
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.
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 |
---|
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
PCK1
Specificity
100 %
Genes
100 % |
![]() 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 % |
![]() 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 % |
![]() 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 % |
![]() By CGC Genetics (Portugal).
SLC2A2, AGL, FBP1, G6PC, SLC37A4, GAA, GBE1, GYS2, PCK1, PHKA2, PHKB, PHKG2, PYGL
Specificity
8 %
Genes
100 % |
![]() 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 % |
![]() By PreventionGenetics PreventionGenetics (United States).
PCK1
Specificity
100 %
Genes
100 % |
![]() 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 moreSources and references
You can check the following sources for additional information.
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