Overview
Autosomal recessive infantile hypercalcemia is a rare inherited condition in which babies develop dangerously high levels of calcium in their blood during infancy. This condition is caused by problems with how the body breaks down or regulates vitamin D. When vitamin D is not properly inactivated, it leads to too much calcium being absorbed from food into the bloodstream. The excess calcium can cause a range of problems including poor feeding, vomiting, failure to gain weight, dehydration, and in some cases kidney damage from calcium deposits. There are two main types of this condition. One type is caused by mutations in the CYP24A1 gene, which normally helps break down active vitamin D. The other type involves mutations in the SLC34A1 gene, which affects how the kidneys handle phosphate and indirectly leads to increased vitamin D activity and high calcium levels. Both types present in a similar way during infancy. Treatment focuses on lowering calcium levels and protecting the kidneys. This typically involves restricting vitamin D and calcium in the diet, ensuring good hydration, and sometimes using medications to lower blood calcium. With early diagnosis and proper management, many children can do well, but long-term monitoring is important because high calcium levels can return, especially during periods of sun exposure or illness. Some individuals may not be diagnosed until later in life when kidney stones or other complications develop.
Also known as:
Key symptoms:
High calcium levels in the bloodPoor feeding or refusal to eatVomitingFailure to gain weight or grow properlyDehydrationExcessive thirstFrequent urinationConstipationIrritability or fussinessKidney stonesCalcium deposits in the kidneys (nephrocalcinosis)Muscle weakness or low muscle toneLethargy or unusual sleepinessHigh calcium levels in the urine
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
6 eventsUniversity Hospital, Montpellier — NA
University of Valencia
Integra LifeSciences Corporation
University Hospital, Caen — NA
Middle East North Africa Stroke and Interventional Neurotherapies Organization
Children's Hospital of Philadelphia — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive infantile hypercalcemia.
2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Autosomal recessive infantile hypercalcemia.
Community
No community posts yet. Be the first to share your experience with Autosomal recessive infantile hypercalcemia.
Start the conversation →Latest news about Autosomal recessive infantile hypercalcemia
Disease timeline:
New recruiting trial: Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria
A new clinical trial is recruiting patients for Autosomal recessive infantile hypercalcemia
New recruiting trial: Vitamin D Analog in Vitamin D 24-hydroxylase Deficiency
A new clinical trial is recruiting patients for Autosomal recessive infantile hypercalcemia
New recruiting trial: VEHICLE Registry: Venous Stenting for IIH in the MENA Region
A new clinical trial is recruiting patients for Autosomal recessive infantile hypercalcemia
New recruiting trial: IIH Intervention: A Clinical Trial Comparing 2 Treatments (Shunts and Stents) Evaluation Of Clinical Effectiveness And Cost Effectiveness
A new clinical trial is recruiting patients for Autosomal recessive infantile hypercalcemia
New recruiting trial: Advanced Neuroimaging in Idiopathic Intracranial Hypertension
A new clinical trial is recruiting patients for Autosomal recessive infantile hypercalcemia
New recruiting trial: BMI in Idiopathic Intracranial Hypertension and Its Relationship With the Response to Treatment
A new clinical trial is recruiting patients for Autosomal recessive infantile hypercalcemia
New recruiting trial: Intracranial Venous Stenting Evaluation in Patients With Idiopathic Intracranial Hypertension in the Early Phase
A new clinical trial is recruiting patients for Autosomal recessive infantile hypercalcemia
New recruiting trial: Venous Stenting Evaluation in Patients With Intracranial Hypertension Under Long-term Acetazolamide
A new clinical trial is recruiting patients for Autosomal recessive infantile hypercalcemia
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What type of infantile hypercalcemia does my child have, and which gene is affected?,How often should my child's blood calcium and kidney function be checked?,What specific foods and supplements should we avoid?,How much sun exposure is safe, and what precautions should we take?,What are the warning signs that calcium levels are getting dangerously high?,Will my child need lifelong monitoring, and what does long-term follow-up look like?,Should other family members be tested, and what does this mean for future pregnancies?
Common questions about Autosomal recessive infantile hypercalcemia
What is Autosomal recessive infantile hypercalcemia?
Autosomal recessive infantile hypercalcemia is a rare inherited condition in which babies develop dangerously high levels of calcium in their blood during infancy. This condition is caused by problems with how the body breaks down or regulates vitamin D. When vitamin D is not properly inactivated, it leads to too much calcium being absorbed from food into the bloodstream. The excess calcium can cause a range of problems including poor feeding, vomiting, failure to gain weight, dehydration, and in some cases kidney damage from calcium deposits. There are two main types of this condition. One t
How is Autosomal recessive infantile hypercalcemia inherited?
Autosomal recessive infantile hypercalcemia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive infantile hypercalcemia typically begin?
Typical onset of Autosomal recessive infantile hypercalcemia is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for Autosomal recessive infantile hypercalcemia?
Yes — 2 recruiting clinical trials are currently listed for Autosomal recessive infantile hypercalcemia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Autosomal recessive infantile hypercalcemia?
3 specialists and care centers treating Autosomal recessive infantile hypercalcemia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.