Living with Mitochondrial pyruvate carrier deficiency
A rare condition that starts in the newborn period, with brain disease, developmental delay, and lactic acid buildup.
Understanding Mitochondrial pyruvate carrier deficiency
It causes a mitochondrial brain disease (encephalopathy) with global developmental delay. Blood tests show lactic acid buildup and raised pyruvate. Other reported features include epilepsy, nerve damage, low muscle tone, rapid eye movements, an enlarged liver, and certain facial features such as a head that grows slowly.
Signs & symptoms
GARD lists these among the less common symptoms; its summary also describes the features above:
- Brain disease (encephalopathy)
- Nerve damage in the arms and legs (peripheral neuropathy)
- Breathing difficulties
- Head that grows slowly (progressive microcephaly)
- Eye folds (epicanthus)
- Long philtrum (groove above the upper lip)
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 brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in MPC1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- 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 and other patient organizations
- 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
This condition is caused by changes in the MPC1 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: mpycd
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
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