Living with Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
A rare mitochondrial condition with long-lasting acid build-up, low muscle tone, facial differences and delayed development.
Understanding Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
It involves long-lasting acid build-up in the blood (metabolic acidosis), low muscle tone, facial differences and delayed development. It starts in newborns and infants. Episodes of illness can occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Global developmental delay
- Slow weight gain (failure to thrive)
- Poor coordination (ataxia)
- Seizures
- Stroke-like episodes
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, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in LRPPRC 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); Eye disease specialists (ophthalmologists); 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
Changes in the LRPPRC gene are listed. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: congenital lactic acidosis saguenay-lac-saint-jean type; cox deficiency, french canadian type; cox deficiency, french-canadian type; cytochrome c oxidase deficiency french-canadian type; cytochrome c oxidase deficiency, french canadian type; cytochrome c oxidase deficiency, french-canadian type
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 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type.
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