Living with Phosphoenolpyruvate carboxykinase deficiency, cytosolic
A rare inherited metabolism condition in which the body can't make enough sugar between meals, causing low blood sugar and liver problems.
Understanding Phosphoenolpyruvate carboxykinase deficiency, cytosolic
The body lacks an enzyme it needs for gluconeogenesis, the process of making glucose (sugar) from other sources. In severe cases, newborns have persistent low blood sugar, poor weight gain, lactic acid build-up, an enlarged liver, and liver failure. Milder cases appear in childhood with fewer liver problems. Infections and fasting can trigger symptoms.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low blood sugar in newborns
- Enlarged liver
- Liver problems
- Poor weight gain
- Seizures
- Delays in development
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.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 PEPCK1 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: pck1 deficiency, cytosolic; pckdc; pepck deficiency, cytosolic
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Phosphoenolpyruvate carboxykinase deficiency, cytosolic.
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