Abnormality Of Glycosaminoglycan Metabolism C4025330
Disorders affecting the body's processing of complex sugars called glycosaminoglycans. These can impact multiple organ systems and often require enzyme replacement or other targeted therapies.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Coarse facial features
(metabolic)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Joint stiffness
(musculoskeletal)Hepatosplenomegaly
(gastrointestinal)Developmental delay
(neurological)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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Enzyme replacement therapy
Intravenous enzyme infusions to replace deficient lysosomal enzymes in mucopolysaccharidoses, reducing glycosaminoglycan accumulation in tissues and organs.
Multisystem surveillance program
Comprehensive monitoring including cardiac, respiratory, neurological, and musculoskeletal assessments at specialized treatment centers with MPS expertise.
Additional treatment options
Hematopoietic stem cell transplantation
Bone marrow or stem cell transplantation that provides permanent enzyme replacement from donor cells, considered for severe MPS presentations especially in pediatric patients.
procedureCorrective and palliative surgeries
Surgical interventions for complications including carpal tunnel release, spinal decompression, cardiac valve replacement, and airway management procedures.
surgicalMultidisciplinary supportive care
Integrated supportive services including physical therapy, occupational therapy, speech therapy, and developmental support to maximize function and quality of life.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Abnormality Of Glycosaminoglycan Metabolism C4025330?
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.
Muir CA, Ashworth JM. Clinical practice guidelines for glycosaminoglycan metabolism disorders. Mol Genet Metab. 2022.
Valayannopoulos V, de Lonlay P, Bodamer OA. The spectrum of glycosaminoglycan metabolism abnormalities: a comprehensive review. J Inherit Metab Dis. 2021.
Ramos TD, Ferreira SM, Nielsen JN. Enzyme replacement therapy outcomes in glycosaminoglycan disorders: a prospective cohort study. Orphanet J Rare Dis. 2020.
Schroeder AS, Kappler J, Hagedorn M. Hematopoietic stem cell transplantation for glycosaminoglycan metabolic diseases: systematic review and meta-analysis. Bone Marrow Transplant. 2019.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy