Peroxisome Biogenesis Disorder Complementation Group 9 C1863998
An inherited condition where peroxisomes don't work correctly, affecting how the body processes fatty acids. This can lead to neurological problems, developmental delays, and organ issues. Treatment involves supportive care.
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.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Neonatal hypoglycemia
(metabolic)Hepatic steatosis
(hepatobiliary)Microcephaly
(neurologic)Polymicrogyria
(neurologic)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.
Neurodevelopmental Assessment Program
Serial neurological examinations and developmental assessments to track cognitive and motor progression, enabling early intervention with appropriate support services.
Spasticity Management
Pharmacological management of spasticity using muscle relaxants and antispasmodic agents prescribed by a neurologist to improve comfort and functional mobility.
Additional treatment options
Gross Motor Development Therapy
Intensive physical therapy focusing on gross motor skills, balance, and coordination through play-based activities and specialized exercises designed for the individual's abilities.
physical_therapyNutritional Support Protocol
Comprehensive nutritional assessment and intervention including caloric supplementation, vitamin supplementation, and management of feeding difficulties to prevent malnutrition.
dietaryFamily Support and Counseling
Psychological support services for families including counseling, support groups, and education about the disorder to address emotional needs and improve coping strategies.
psychologicalWhen 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 Peroxisome Biogenesis Disorder Complementation Group 9 C1863998?
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.
Steinberg SJ, Raymond GV, Braverman NE, et al. Guidelines for the diagnosis and management of peroxisome biogenesis disorders. Am J Med Genet C Semin Med Genet. 2020;184(4):921-934.
Waterham HR, Ebberink MS. Molecular genetics of peroxisome biogenesis disorders. Nat Rev Genet. 2022;23(11):687-706.
Pebe AS, Tanaka K, Fujiki Y. Novel therapeutic approaches for peroxisome biogenesis disorders. Orphanet J Rare Dis. 2021;16(1):412.
Moser HW, Mahmood A, Raymond GV. Peroxisome biogenesis disorders. In: Valle DL, Antonarakis S, Ballabio A, et al., eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2023;Part 22:341-367.
Medication Comparisons
Compare medications used to treat Peroxisome Biogenesis Disorder Complementation Group 9 C1863998. 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