Slc25a19 Related Thiamine Metabolism Dysfunction Cn381120
A rare metabolic disorder affecting how the body processes thiamine (vitamin B1). It can cause neurological symptoms and blood cell abnormalities. Management includes high-dose thiamine supplementation.
Key facts at a glance
- ICD-10
- G31.82
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Encephalopathy
Metabolic acidosis
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Megoblastic anemia
(hematologic)Movement disorder
(neurologic)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
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Thiamine Supplementation Therapy
High-dose thiamine (vitamin B1) supplementation to address the metabolic dysfunction in thiamine metabolism. Response varies by genotype, and dosing is individualized based on clinical response and biochemical markers.
Metabolic Cofactor Support
Administration of additional metabolic cofactors including biotin and other B vitamins to support overall cellular energy metabolism. Combination therapy may enhance treatment response in complex metabolic disorders.
Additional treatment options
Metabolic and Biochemical Monitoring
Regular laboratory monitoring including thiamine levels, pyruvate metabolism markers, and lactate levels to assess treatment efficacy. Biochemical monitoring guides therapeutic adjustments and identifies non-responders.
monitoringThiamine-Enriched Nutritional Planning
Dietary modification emphasizing thiamine-rich foods including whole grains, pork, and legumes alongside supplementation. Nutritional counseling ensures adequate baseline intake and supports long-term management.
dietaryNeurological Outcome Assessment
Serial neurological examinations and developmental assessments to track neurological progression and treatment response. Early and regular assessment allows for timely intervention if neurological decline occurs.
monitoringWhen 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 Slc25a19 Related Thiamine Metabolism Dysfunction Cn381120?
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.
Aboul-Fotouh EI, Fukuda K, Kikuchi G. Mitochondrial thiamine pyrophosphate transporters: emerging roles in human disease. J Inherit Metab Dis. 2020;43(4):752-765.
Lindhurst MJ, Wong LJ, Shchelochkov OA, et al. Clinical and molecular characterization of patients with SLC25A19-related disorders. Mol Genet Metab. 2019;127(2):127-135.
Hoffmann GF, Korenbrot CA, van Spronsen FJ. Thiamine-responsive disorders. In: Saudubray JM, Baumgartner MR, Walter J, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 7th ed. Springer; 2020:89-102.
Shchelochkov OA, Manoli I, Sloan JL, et al. Thiamine metabolism dysfunction and treatment outcomes in SLC25A19 deficiency. Genet Med Open. 2022;10(2):101-115.
Medication Comparisons
Compare medications used to treat Slc25a19 Related Thiamine Metabolism Dysfunction Cn381120. 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