PEPCK 1 deficiency

Common Name(s)

PEPCK 1 deficiency, Phosphoenolpyruvate carboxykinase deficiency, cytosolic

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 ({7:Vieira et al., 2017}). See PCKDM ({261650}) for a discussion of mitochondrial PCK (PEPCK2; {614095}) deficiency.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "PEPCK 1 deficiency" for support, advocacy or research.

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.