Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type B2 C6065916
Another form of molybdenum cofactor deficiency causing sulfite oxidase deficiency. This leads to accumulation of toxic metabolites affecting the nervous system. It causes severe neurological injury and is typically fatal in infancy.
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)Ectopia lentis
(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
Percutaneous intervention with follow-up
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 B2 C6065916?
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: genetic and biochemical aspects. Mol Genet Metab. 2015;114(3):355-365.
Schwarz O, Mendelsohn RR, Kohlschmidt A, et al. Clinical practice guidelines for diagnosis and management of sulfite oxidase deficiency. J Inherit Metab Dis. 2021;44(2):412-428.
Hermann N, Kugele A, Fischer C. Long-term outcomes of early diagnosis in molybdenum cofactor deficiency type B: a multicenter prospective study. Orphanet J Rare Dis. 2019;14(1):89.
Zhang Y, Patel SB, Applegarth DA. Neonatal screening and metabolic features of sulfite oxidase deficiency: systematic review and meta-analysis. Clin Chem Lab Med. 2018;56(7):1076-1088.
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.
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