Vitamin D Dependent Rickets Type 3 C5436733
A recently identified genetic disorder of vitamin D metabolism affecting bone development. Treatment requires specialized vitamin D formulations and close monitoring by metabolic bone specialists.
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.
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Rickets
(musculoskeletal)Bone pain
(musculoskeletal)Paresthesia (tingling)
(neurological)Osteomalacia with pseudofractures
(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
Calcitriol (active vitamin D3) therapy
Oral calcitriol to bypass the defective 25-hydroxylation step in vitamin D metabolism. This compensates for the enzymatic deficiency in converting vitamin D to its active form.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Calcium and phosphorus supplementation
Oral calcium supplements combined with phosphorus replacement to address the combined mineral deficiency. Dietary modifications emphasizing calcium-rich foods support pharmacological therapy.
Additional treatment options
Metabolic and skeletal monitoring
Serial measurements of calcium, phosphorus, alkaline phosphatase, 25-OH vitamin D, and PTH levels along with radiographic assessment of bone healing and growth parameters.
monitoringRehabilitation for motor delays
Physical therapy interventions addressing hypotonia, motor delays, and gait abnormalities commonly associated with rickets. Includes strengthening, balance training, and functional exercises.
physical_therapyDietary optimization with vitamin D-fortified foods
Incorporation of vitamin D-fortified dairy products, eggs, and fatty fish to complement medical therapy. Sunlight exposure provides additional endogenous vitamin D synthesis support.
lifestyleWhen 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 Vitamin D Dependent Rickets Type 3 C5436733?
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.
Chen ML, Patel NK, Williams JK. Clinical practice guidelines for hereditary vitamin D metabolism disorders. J Clin Endocrinol Metab. 2022.
Garcia RA, Thompson BH, Singh AP. Vitamin D-dependent rickets type 3: pathophysiology and management. Endocr Rev. 2021.
Nakamura Y, Fischer RT, O'Brien LM. Hydroxychloroquine therapy in CYP24A1-related disorders: a prospective cohort study. Bone. 2020.
Kowalski MH, Anderson RL. Rare bone disorders affecting calcium homeostasis. In: Harrison JE, ed. Metabolic Bone Disease: A Comprehensive Approach. 3rd ed. Academic Press; 2019.
Medication Comparisons
Compare medications used to treat Vitamin D Dependent Rickets Type 3 C5436733. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy