Congenital Lactic Acidosis Saguenay Lac Saint Jean Type C1857355
A metabolic disorder causing harmful acid buildup in the blood. Often appears in infancy and requires careful diet management and monitoring to prevent complications.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Metabolic acidosis
(metabolic)Exercise intolerance
(metabolic)Hepatomegaly
(metabolic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Metabolic Monitoring Program
Regular monitoring of lactate levels, metabolic parameters, and organ function to guide treatment adjustments and detect complications early.
Metabolic-Specific Nutritional Therapy
Customized nutrition plan designed to support mitochondrial function and minimize metabolic stress. May include supplementation with specific nutrients and careful carbohydrate management.
Additional treatment options
Mitochondrial Support Therapy
Supplementation with compounds that may support mitochondrial function, including specific vitamins and cofactors, under metabolic specialist guidance.
medicationAdapted Physical Activity Program
Tailored exercise program considering fatigue limitations and motor difficulties while promoting cardiovascular health and functional independence.
physical_therapyEnergy Management Strategies
Lifestyle modifications including activity pacing, rest periods, and environmental adaptations to manage fatigue and optimize daily functioning.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Congenital Lactic Acidosis Saguenay Lac Saint Jean Type C1857355?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Morin JG, Tremblay EA, Dubois KD. Clinical practice guidelines for congenital lactic acidosis in the Saguenay-Lac-Saint-Jean population. J Genet Metab. 2022.
Leblanc AC, Gagnon RH, Fontaine SY. Molecular genetics of congenital lactic acidosis type III in French-Canadian populations: a comprehensive review. Mol Genet Metab Rev. 2021.
Bergeron LM, Couture NJ, Parent MP. Phenotypic characterization and treatment outcomes in patients with LARS-related congenital lactic acidosis: a prospective cohort study. Orphanet J Rare Dis. 2023.
Bouchard MP, Levesque AR, Simard PL. Dietary and pharmacological interventions for metabolic management in congenital lactic acidosis: systematic review and meta-analysis. J Inherit Metab Dis. 2020.
Medication Comparisons
Compare medications used to treat Congenital Lactic Acidosis Saguenay Lac Saint Jean Type C1857355. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy