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, congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, cytochrome C oxidase deficiency, French-Canadian type, cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type, mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), Cox deficiency, Saguenay Lac saint Jean type, LSFC.
Category: General
Symptoms associated with congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
The following symptoms have been associated with congenital lactic acidosis, Saguenay-Lac-Saint-Jean type in medical literature. Not everyone experiences the same symptoms.
Dysphagia
Difficulty in swallowing....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Generalized-onset seizure
A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilat...
Hypertension
The presence of chronic increased pressure in the systemic arterial system....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tremor
An unintentional, oscillating to-and-fro muscle movement about a joint axis....
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Tests used to investigate congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Healthcare providers may order these tests when evaluating congenital lactic acidosis, Saguenay-Lac-Saint-Jean type. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, which is why a clinical evaluation is important.
Alexander disease
Alexander disease is a medical condition that may be associated with various symptoms and signs....
Alternating hemiplegia of childhood
Alternating hemiplegia of childhood is a medical condition that may be associated with various symptoms and si...
Dursun-Ozgul neurodevelopmental syndrome
Dursun-Ozgul neurodevelopmental syndrome is a medical condition that may be associated with various symptoms a...
Jaberi-Elahi syndrome
Jaberi-Elahi syndrome is a medical condition that may be associated with various symptoms and signs....
Morimoto-Ryu-Malicdan neuromuscular syndrome
Morimoto-Ryu-Malicdan neuromuscular syndrome is a medical condition that may be associated with various sympto...
Prader-Willi syndrome
Prader-Willi syndrome is a medical condition that may be associated with various symptoms and signs....
Frequently Asked Questions
What is congenital lactic acidosis, Saguenay-Lac-Saint-Jean type?
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type is a health condition described in medical literature. 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.
What are the symptoms of congenital lactic acidosis, Saguenay-Lac-Saint-Jean type?
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type is associated with 7 symptoms in the medical literature we index, including Dysphagia, Failure to thrive, Generalized-onset seizure, Hypertension, Seizure, Tremor. Symptoms vary widely between individuals.
How is congenital lactic acidosis, Saguenay-Lac-Saint-Jean type diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with congenital lactic acidosis, Saguenay-Lac-Saint-Jean type include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, please discuss your symptoms with a qualified healthcare provider.