Disease

Phosphoenolpyruvate carboxykinase deficiency, cytosolic1, 2, 3

Gene

PCK1

Inheritance AR
Current Treatments IV glucose during acute episodes and avoid fasting
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test glucose, urine organic acids2
Experimental / Investigational Therapies https://clinicaltrials.gov/search?cond=%09Phosphoenolpyruvate%20carboxykinase%20deficiency&viewType=Table
Last Updated: March 5, 2026
RX Genes
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