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Vitamin D Hydroxylation Deficient Rickets Type 1b C1838657

Published: July 22, 2026Updated: August 20, 2026

A genetic disorder affecting vitamin D metabolism, leading to soft and weak bones resembling rickets. It appears in childhood and requires specialized treatment with active vitamin D forms.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

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.

Warning signs - seek immediate care

!

Hypocalcemic seizures

Fatigue or weight changes

(metabolic)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Growth retardation

(musculoskeletal)

Rachitic rosary

(musculoskeletal)

Bone deformities

(musculoskeletal)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

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

1

Calcitriol (Active Vitamin D) Replacement

Administration of calcitriol (1,25-dihydroxyvitamin D3) as the hydroxylation defect prevents endogenous conversion to active form. This bypasses the enzymatic deficiency directly providing the active hormone.

medication
2

Exercise prescription and weight management

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
3

Calcium and Phosphorus Supplementation

Adequate dietary calcium intake through supplements and calcium-rich foods to support bone mineralization. Maintain appropriate calcium-to-phosphorus ratio in consultation with healthcare providers.

dietary

Additional treatment options

Musculoskeletal Rehabilitation

Physical therapy program focusing on bone strength, muscle development, and joint mobility. Appropriate exercise helps improve bone density and reduces fracture risk in patients with skeletal deformities.

physical_therapy

Calcium-Phosphorus Balance Monitoring

Regular monitoring of serum calcium, phosphorus, alkaline phosphatase, and parathyroid hormone levels. Urinary calcium excretion monitoring helps prevent nephrocalcinosis while ensuring adequate treatment.

monitoring

Orthopedic Intervention for Skeletal Deformities

Surgical correction of severe skeletal deformities such as bowing or torsion when conservative measures are insufficient. Procedures may include osteotomies or guided growth techniques.

surgical

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Vitamin D Hydroxylation Deficient Rickets Type 1b C1838657?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Miller JR, Chen KW, Patel NK. Clinical practice guidelines for hereditary rickets due to vitamin D metabolism defects. J Bone Miner Res. 2022.

guideline2022
2

Thompson SM, Williams HA, Garcia-Lopez RP. Vitamin D hydroxylase deficiency: pathophysiology and clinical management. Endocr Rev. 2021.

review2021
3

Anderson CP, Bhattacharya A, Santos MF. Enzyme replacement therapy outcomes in CYP27B1 deficiency: a prospective cohort study. Lancet Diabetes Endocrinol. 2020.

clinical_trial2020
4

O'Connor DM, Lee SH, Nakamura R. Systematic review and meta-analysis of treatment modalities for vitamin D-dependent rickets. Bone. 2019.

meta_analysis2019

Medication Comparisons

Compare medications used to treat Vitamin D Hydroxylation Deficient Rickets Type 1b C1838657. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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