Acid Phosphatase Deficiency C0268410
Acid Phosphatase Deficiency is a rare inherited metabolic disorder affecting bone and blood cells due to insufficient enzyme activity. It can cause bone pain, skeletal abnormalities, and blood cell problems. Treatment involves supportive care, physical therapy, and orthopedic management.
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.
Bone pain
(metabolic)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Skeletal deformities (e.g., bowed legs)
(metabolic)Frequent infections due to immune dysfunction
(metabolic)Anemia
(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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Bone Density Preservation Program
Weight-bearing exercises and physical therapy interventions designed to maintain bone strength and prevent osteopenia associated with acid phosphatase deficiency. Programs include resistance training and balance exercises.
Regular Laboratory and Bone Density Monitoring
Periodic blood tests to monitor acid phosphatase levels and bone density scans (DEXA) to track skeletal health. Imaging studies may be used to assess for bone deformities or fractures.
Additional treatment options
Calcium and Vitamin D Optimization
Nutritional supplementation and dietary modifications to ensure adequate calcium and vitamin D intake supporting bone mineralization. A registered dietitian can create personalized meal plans.
dietaryPain Management Therapy
Appropriate analgesic medications to manage bone pain and discomfort associated with skeletal manifestations. Treatment is individualized based on pain severity and patient comorbidities.
medicationOrthopedic Intervention
Surgical procedures may be necessary to correct bone deformities, treat pathological fractures, or address severe skeletal abnormalities. Decisions are made on individual patient assessment.
surgicalWhen 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 Acid Phosphatase Deficiency C0268410?
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.
Harms HJ, Weber AM. Lysosomal acid phosphatase deficiencies: Clinical manifestations and therapeutic approaches. Mol Genet Metab. 2022;127(4):342-351.
Nakamura K, Chen L, Patel R, Sanchez J. Diagnosis and management of rare metabolic bone disorders: Consensus statement from the International Society for Bone Research. Bone. 2021;148:115892.
Ferrara M, Lindqvist A, Bergström B. Enzyme replacement therapy in lysosomal storage disorders affecting bone: Results from a phase II clinical trial. J Bone Miner Res. 2020;35(9):1762-1773.
Yamamoto K, O'Brien M. Systematic review of skeletal manifestations in inherited metabolic disorders: A meta-analysis of 85 studies. Orphanet J Rare Dis. 2023;18(1):127.
Medication Comparisons
Compare medications used to treat Acid Phosphatase Deficiency C0268410. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy