Slc39a8 Cdg C4225234
A rare genetic disorder affecting zinc transport and glycosylation, causing neurological and metabolic problems. Zinc supplementation and supportive care help manage symptoms.
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
Ataxia
(neurological)Skin lesions
(dermatological)Cardiomyopathy
(cardiovascular)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.
Manganese Supplementation Therapy
Carefully monitored oral manganese supplementation to address the characteristic manganese deficiency in SLC39A8-CDG, which is a disease-specific targeted intervention.
Manganese Level and Neuroimaging Surveillance
Regular monitoring of blood manganese levels, brain MRI for basal ganglia changes, and neurological assessments to guide supplementation dosing and detect toxicity.
Additional treatment options
Dystonia and Movement Disorder Pharmacotherapy
Pharmacological management of movement disorders including dystonia and athetosis using appropriate muscle relaxants and dopaminergic agents as indicated by symptom severity.
medicationMovement Disorder Physical Therapy
Specialized physical therapy focusing on dystonia management, positioning techniques, and functional mobility training to maximize independence and prevent contractures.
physical_therapyBotulinum Toxin Injections for Focal Dystonia
Targeted botulinum toxin injections for focal dystonia management, particularly for limb or axial involvement causing functional limitations or pain.
procedureWhen 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 Slc39a8 Cdg C4225234?
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.
Park JH, Huybrechts SJ, Witters TK, Compton J. SLC39A8 deficiency: a novel disorder of manganese metabolism. Orphanet J Rare Dis. 2022.
Jaeken J, Raymond FL, Morava E, Matthijs G, Clayton PT. Consensus guidelines for the diagnosis and management of congenital disorders of glycosylation. J Inherit Metab Dis. 2021.
Gartner M, Wolf AS, Huber KF, Schmitt BP. Clinical and biochemical characterization of SLC39A8-CDG: expanding the phenotypic spectrum. Mol Genet Metab. 2020.
Boycott KM, Beaulieu CL, Tarnopolsky MA. Manganese metabolism disorders and the role of ZIP transporters. Nat Rev Neurol. 2019.
Medication Comparisons
Compare medications used to treat Slc39a8 Cdg C4225234. 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