congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.

Also known as: COX deficiency, French-Canadian type, Leigh syndrome, French-Canadian type, Leigh syndrome, Saguenay-Lac-Saint-Jean type, SLSJ-COX deficiency, cytochrome C oxidase deficiency, French-Canadian type, cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type

Category: General

What is congenital lactic acidosis, Saguenay-Lac-Saint-Jean type?

congenital lactic acidosis, Saguenay-Lac-Saint-Jean type is a recognized medical condition. This page explains what it is, symptoms that may accompany it, and the lab tests healthcare providers sometimes use to investigate it. It is educational information only and is not a diagnosis.

If you think you may have congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

DysphagiaFailure to thriveGeneralized-onset seizureHypertensionSeizureTremorVomiting

When to seek medical care

Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.