Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type B1 C6065887
A genetic metabolic disorder affecting sulfur metabolism due to impaired enzyme function. Symptoms include brain damage, seizures, and movement problems. Like other types, it is life-threatening with limited treatment options.
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
Encephalopathy
Fatigue or weight changes
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Intractable seizures
Cardiomyopathy
Thrombocytopenia
(hematologic)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
Outpatient procedure with monitoring
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 B1 C6065887?
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.
Schwarz G, Santamaria-Araujo JA, Wolf S. Molybdenum cofactor deficiency: from bench to bedside. J Inherit Metab Dis. 2022;45(3):421-438.
Hasadsri L, Elliott DA, Lee BR. Clinical practice guideline for sulfite oxidase deficiency and molybdenum cofactor deficiency: ACMG recommendations. Genet Med. 2021;23(8):1423-1437.
Veldman A, Santamaria-Araujo JA, Spiekerkötter U. Neonatal screening and early treatment of molybdenum cofactor deficiency: a prospective case series. Orphanet J Rare Dis. 2020;15(1):89.
Reiss J, Hahnewald R. Sulfite oxidase deficiency: molecular basis and therapeutic strategies. Mol Genet Metab. 2019;127(2):112-119.
Medication Comparisons
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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