Alpl Related Autosomal Recessive Hypophosphatasia Cn379221
A genetic bone disorder causing weak bones and teeth problems due to low enzyme levels. Severity varies; treatment may include enzyme replacement and supportive care.
Key facts at a glance
- ICD-10
- M79.9
- ICD-11
- FA00.0
- Body system
- musculoskeletal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Respiratory difficulties
Bone pain
(musculoskeletal)Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Growth retardation
(musculoskeletal)Premature tooth loss
(musculoskeletal)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
Asfotase alfa enzyme replacement
Recombinant tissue-nonspecific alkaline phosphatase replacement therapy to address the underlying enzyme deficiency. This targeted therapy helps improve bone mineralization and reduce skeletal manifestations.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Bone mineralization monitoring
Regular assessment of bone health through imaging and biochemical markers to evaluate treatment response and disease progression. Includes serum alkaline phosphatase and pyrophosphate measurements.
Additional treatment options
Calcium and vitamin D supplementation
Adequate calcium intake combined with vitamin D supplementation to support bone health. Dietary modifications may be necessary based on individual nutritional needs and absorption capacity.
dietaryOrthopedic intervention
Surgical management for severe skeletal deformities including fractures, bowing, or bone abnormalities that do not respond to conservative measures. May include corrective procedures for long bone deformities.
surgicalMobility and strength rehabilitation
Physical therapy focused on improving weight-bearing capacity, gait training, and muscle strength. Adaptive equipment may be recommended to support safe ambulation.
physical_therapyWhen 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 Alpl Related Autosomal Recessive Hypophosphatasia Cn379221?
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.
Mornet E, Beck-Nielsen SS, Linglart A, et al. European guidelines for the diagnosis and management of hypophosphatasia. Orphanet J Rare Dis. 2022.
Kishnani PS, Rush ET, Arundel P, et al. Hypophosphatasia: mining the medical literature. J Bone Miner Res. 2021.
Whyte MP, Rockman-Greenberg C, Ozono K, et al. Asfotase alfa treatment in infants and young children with hypophosphatasia. Lancet Diabetes Endocrinol. 2020.
Farrow EG, Imel EA, White KE. Mineral metabolism abnormalities in hypophosphatasia: a systematic review and meta-analysis. Bone. 2023.
Medication Comparisons
Compare medications used to treat Alpl Related Autosomal Recessive Hypophosphatasia Cn379221. 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