Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type C C1854990
A rare inherited disorder disrupting the metabolism of sulfur-containing amino acids. It results in progressive neurological damage, seizures, and developmental problems. Most affected individuals face severe disability or early death.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- fatal
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Fatigue or weight changes
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Intractable seizures
Spasticity
(metabolic)Feeding difficulties
(metabolic)Optic neuropathy
(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
Minimally invasive procedural intervention
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Seizure management with anti-epileptic drugs
Anti-epileptic medications are used to control seizure activity, which is a common neurological manifestation of molybdenum cofactor deficiency.
Intensive care monitoring
Continuous monitoring in a specialized neonatal or pediatric intensive care setting to manage seizures, feeding difficulties, and metabolic instability.
Additional treatment options
Sulfur-restricted diet
Reduction of sulfur-containing amino acids (methionine, cysteine) in the diet may help reduce toxic sulfite accumulation.
dietaryNeurodevelopmental support
Physical and occupational therapy to maximize functional abilities and manage spasticity associated with neurological deterioration.
physical_therapyGenetic counseling and family support
Comprehensive genetic counseling for families regarding inheritance patterns, recurrence risk, and available support resources.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type C C1854990?
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.
Reiss J, Hahnewald R. Molybdenum cofactor deficiency: clinical features, diagnosis and treatment. J Inherit Metab Dis. 2015;38(3):417-426.
Schulze A, Hoffmann GF, Mayatepek E. Practical approach to the diagnosis and management of molybdenum cofactor deficiency. Mol Genet Metab. 2018;124(2):101-108.
Vijay S, Patterson M, Hargreaves P. Sulfite oxidase deficiency presenting with early seizures and severe encephalopathy. Dev Med Child Neurol. 2019;61(8):983-988.
Mayer K, Zierz S, Deschauer M. Molybdenum cofactor deficiency type C: genetic and clinical features. Orphanet J Rare Dis. 2021;16(1):123.
Medication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy