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GTR Home > Conditions/Phenotypes > Phosphoenolpyruvate carboxykinase deficiency, cytosolic

Phosphoenolpyruvate carboxykinase deficiency, cytosolic

Synonyms
PCK1 DEFICIENCY, CYTOSOLIC; PEPCK DEFICIENCY, CYTOSOLIC

Summary

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 (261650) for a discussion of mitochondrial PCK (PEPCK2; 614095) deficiency. [from OMIM]

Available tests

27 tests are in the database for this condition.

Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: PCKDC, PEPCK-C, PEPCK1, PEPCKC, PCK1
    Summary: phosphoenolpyruvate carboxykinase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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