Living with Phosphoenolpyruvate carboxykinase (GTP) deficiency
A rare inherited metabolic condition starting in newborns or infants, with low blood sugar, liver problems, and delayed development.
Understanding Phosphoenolpyruvate carboxykinase (GTP) deficiency
It includes cytosolic and mitochondrial forms. Symptoms start in the newborn period or a few months after birth. They include low blood sugar with episodes of lactic acid build-up, liver problems, and kidney tube problems. Children may also have poor weight gain, low muscle tone, developmental delay with seizures, and heart muscle disease. GARD says it does not typically exist in isolated form.
Signs & symptoms
GARD lists these less common features:
- Low blood sugar
- Liver problems
- Sleepiness and low energy (lethargy)
- Small head (microcephaly)
- Brain illness during episodes (encephalopathy)
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
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- 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 genes (also called variants) cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: pepck - phosphoenolpyruvate carboxykinase deficiency; pepck deficiency; phosphoenolpyruvate carboxykinase deficiency
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 (GTP) deficiency.
Explore research for Phosphoenolpyruvate carboxykinase (GTP) deficiency
Explore actively recruiting Phosphoenolpyruvate carboxykinase (GTP) deficiency studies with HealthSpark.
Find actively recruiting studies for Phosphoenolpyruvate carboxykinase (GTP) deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Phosphoenolpyruvate carboxykinase (GTP) deficiency studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Phosphoenolpyruvate carboxykinase (GTP) deficiency
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Phosphoenolpyruvate carboxykinase (GTP) deficiency experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.