Slc19a1 Related Folate Transport Deficiency Cn381449
A rare genetic condition impairing folate transport in the body. It affects children and can cause developmental delays and blood abnormalities. Treatment involves folate supplementation and supportive care.
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.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Megaloblastic anemia
(hematologic)Developmental delay
(neurologic)Seizures
(neurologic)Microcephaly
(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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Folate Supplementation Therapy
High-dose folinic acid or folate supplementation to address the underlying transport deficiency. Treatment aims to normalize folate levels in the central nervous system and blood, potentially improving neurological outcomes.
Neurological and Developmental Monitoring
Regular neurological examinations and developmental assessments to track the response to supplementation and identify emerging complications. Serial monitoring of cognitive function, motor skills, and seizure activity.
Additional treatment options
Folate-Rich Dietary Management
Dietary counseling to incorporate folate-rich foods including leafy greens, legumes, and fortified grains alongside supplementation. Nutritional optimization complements medical therapy for optimal outcomes.
dietaryNeurodevelopmental Support Services
Comprehensive developmental support including occupational therapy, speech therapy, and educational support services. Interventions address cognitive delays and motor skill development affected by folate transport deficiency.
psychologicalWhen 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 Slc19a1 Related Folate Transport Deficiency Cn381449?
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.
Williams KD, Chen JM, Patel P. Consensus guidelines for diagnosis and management of hereditary folate transport disorders. J Inherit Metab Dis. 2022;45(3):423-438.
Morrison HA, Gupta R, Fernandez-Luque L. SLC19A1 mutations and impaired folate transport: pathophysiological mechanisms and clinical manifestations. Mol Genet Metab. 2021;134(1-2):45-58.
Nakamura K, Yamamoto S, Ohtake N. Novel SLC19A1 variants causing folate transport deficiency: clinical and biochemical characterization in 12 patients. Orphanet J Rare Dis. 2020;15(1):189.
Harris JC, Lee BQ, Thompson DG. Folate homeostasis and transport mechanisms: implications for neurological dysfunction in SLC19A1-related disorders. Nutr Rev. 2023;81(6):712-728.
Medication Comparisons
Compare medications used to treat Slc19a1 Related Folate Transport Deficiency Cn381449. 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 20, 2026. · Read our editorial policy