Living with Pyruvate dehydrogenase phosphatase deficiency
A very rare form of pyruvate dehydrogenase deficiency with lactic acid buildup in newborns.
Understanding Pyruvate dehydrogenase phosphatase deficiency
It starts in the newborn and infant period. GARD lists low muscle tone, mild developmental delay, and brain imaging differences among the common features.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone in newborns (hypotonia)
- Low muscle tone in the trunk
- Mild delays in development
- Differences on brain imaging
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in PDP1 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
Epilepsy Foundation, 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); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation, 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 Epilepsy 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 PDP1 gene. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: lactic acidemia with pyruvate dehydrogenase phosphatase deficiency; pdh phosphatase deficiency; pdhpd
Patient organizations
- Epilepsy FoundationEpilepsy · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Pyruvate dehydrogenase phosphatase deficiency.
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