Living with Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
A rare inherited condition that can cause low blood sugar and liver problems, linked to the PCK2 gene.
Understanding Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
It comes from a shortage of the enzyme PEPCK. In some people, large amounts of fat have been found in the liver and kidneys.
Signs & symptoms
GARD doesn't list specific symptoms, but the summary describes:
- Low blood sugar (hypoglycemia)
- Liver problems
- Fat build-up in the liver and kidneys (in some people)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
United Mitochondrial Disease Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: United Mitochondrial Disease Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with United Mitochondrial Disease Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PCK2 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: pck2 deficiency; pepck deficiency, mitochondrial; pepck2 deficiency
Patient organizations
- United Mitochondrial Disease FoundationPhosphoenolpyruvate carboxykinase deficiency, mitochondrial · United States
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