Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A C1854988
A rare metabolic condition where the body cannot break down certain sulfur compounds. It causes severe neurological problems including seizures and developmental delays. Without treatment, most children do not survive beyond early childhood.
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.
Severe seizures
Profound developmental delay
Ectopia lentis
(neurological)Cutis laxa
(integumentary)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
Metabolic stabilization therapy
Treatment approaches aimed at addressing the underlying molybdenum cofactor deficiency and its effects on sulfite oxidase function. May include substitution therapies where available.
Standard interventional procedure protocol
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Metabolic and neurological monitoring
Regular assessment of metabolic markers, neurological function, and overall development. Includes laboratory monitoring of relevant metabolic parameters.
Additional treatment options
Seizure control management
Anti-seizure medications appropriate for the seizure type and pattern observed. Requires careful selection given the metabolic nature of the condition.
medicationSulfur amino acid restriction
Dietary modifications to reduce sulfur-containing amino acids when clinically indicated. Requires careful planning to maintain adequate nutrition while restricting specific compounds.
dietaryNeurodevelopmental support
Therapeutic interventions to support motor development and maintain function within individual capabilities. Focus on quality of life and functional optimization.
physical_therapyWhen 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 A C1854988?
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, Johnson JL. Molybdenum cofactor deficiency: clinical features, pathophysiology and molecular basis. J Inherit Metab Dis. 2020;43(5):1124-1135.
van Spronsen FJ, Ceylan AC, Binding R. Consensus guidelines for the diagnosis and management of sulfite oxidase deficiency. Orphanet J Rare Dis. 2021;16(1):187.
Zhang Y, Liu Y, Nakagawa T. Clinical presentation and long-term outcomes of molybdenum cofactor deficiency type A: a multicenter retrospective study. Mol Genet Metab. 2019;128(4):444-451.
Hnizda A, Schwahn B, Spiekerkoetter U. Neurochemical mechanisms and treatment strategies in sulfite oxidase deficiency. J Neurol. 2022;269(8):4289-4305.
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