--- title: What is Hypophosphatasia? description: Learn what hypophosphatasia is, how it affects children, and the latest treatments. Expert insights from pediatric endocrinologist Dr. Kelli Davis. image: https://lifeendo.com/hubfs/dr-kelli-davis-hypophosphatasia-expert-2.png --- [![LIFE_Pediatric_CBP_white](https://lifeendo.com/hs-fs/hubfs/LIFE_Pediatric_CBP_white.png?width=477&height=111&name=LIFE_Pediatric_CBP_white.png "LIFE_Pediatric_CBP_white")](https://lifeendo.com/) [![LIFE_Pediatric_CBP_full_color.](https://lifeendo.com/hs-fs/hubfs/LIFE_Pediatric_CBP_full_color..png?width=477&height=111&name=LIFE_Pediatric_CBP_full_color..png "LIFE_Pediatric_CBP_full_color.")](https://lifeendo.com/) - [About](https://lifeendo.com/about) - [Meet Your Providers](https://lifeendo.com/about) - [Locations](https://lifeendo.com/locations) - [FAQ](https://lifeendo.com/faq) - Services ### General Endocrine Care - - Early Puberty -   - Poor Growth -   - Thyroid Problems - - Type 1 Diabetes -   - Adrenal insufficiency -   - Congenital Adrenal Hyperplasia Medical Weight Loss [Visit The Store](https://lifeendo.com/redirecting-to-supplement-store) - [Blog](https://lifeendo.com/blog) - [Patients](https://lifeendo.com/patients) - [Store](https://lifeendo.com/redirecting-to-supplement-store) [Inquire Here](https://lifeendo.com/contact-weight-loss) [Inquire Here](https://lifeendo.com/contact) - [About](https://lifeendo.com/about) - [Locations](https://lifeendo.com/locations) - [Medical Weight Loss](https://lifeendo.com/medical-weight-loss) - [FAQ](https://lifeendo.com/faq) - [Blog](https://lifeendo.com/blog) - [Patients](https://lifeendo.com/patients) - [Store](https://lifeendo.com/redirecting-to-supplement-store) [Inquire Here](https://lifeendo.com/contact-weight-loss) [Bone Disease](https://lifeendo.com/blog/tag/bone-disease) # What is Hypophosphatasia? [![Dr. Kelli Davis](https://lifeendo.com/hs-fs/hubfs/Kelli%20Davis.png?width=40&height=40&name=Kelli%20Davis.png)](https://lifeendo.com/blog/author/dr-kelli-davis) by [Dr. Kelli Davis](https://lifeendo.com/blog/author/dr-kelli-davis) 3 min read Sep 9, 2025 *A Pediatric Endocrinologist Explains the Rare Bone Disorder* By [Dr. Kelli Davis](https://lifeendo.com/about-dr-kelli-davis), Pediatric Endocrinologist & National Bone Expert --- ## Understanding Hypophosphatasia in Children **Hypophosphatasia (HPP)** is a rare, inherited **metabolic bone disorder** caused by mutations in the **ALPL gene**. This gene encodes tissue-nonspecific alkaline phosphatase (TNSALP)—an enzyme essential for bone and dental mineralization. When TNSALP is deficient, key substances such as **inorganic pyrophosphate (PPi), pyridoxal 5'-phosphate (PLP), and phosphoethanolamine (PEA)** build up in the body. These excess substrates interfere with healthy bone and tooth development, leading to fragile bones, rickets-like features, and sometimes serious systemic complications. --- ## Signs and Symptoms of Hypophosphatasia HPP affects children differently depending on severity. Some cases are life-threatening, while others are mild and primarily involve dental changes. **Common features include:** - Weak or soft bones resembling rickets - **Premature loss of baby teeth**, often with roots intact - Delayed walking or motor skill impairment - **Craniosynostosis** (premature fusion of skull bones) - Chronic **musculoskeletal pain** - **Failure to thrive** or poor growth - In severe cases, **vitamin B6-dependent seizures** caused by high PLP levels Even children with mild forms—like **odonto-HPP** (dental-only disease)—require careful evaluation, since misdiagnosis can delay treatment. --- ## How Hypophosphatasia Is Diagnosed Diagnosis requires a **combination of laboratory testing, imaging, and genetics**: - **Low alkaline phosphatase (ALP)** for age (a hallmark feature) - Elevated ALP substrates (**PLP, PPi, PEA**) - Radiographic signs of rickets or abnormal bone mineralization - Genetic confirmation of **ALPL mutations** In 2024, the **International HPP Working Group** established diagnostic criteria for children and adolescents: - **Two major criteria** (pathogenic ALPL variant, elevated substrates, early tooth loss), or - **One major plus two minor criteria** (e.g., low bone mineral density, radiographic findings) Early recognition is essential to avoid missteps—especially since hypophosphatasia can mimic other bone or endocrine conditions. --- ## Treatment Options for Pediatric Hypophosphatasia Management depends on severity: - **Enzyme Replacement Therapy (ERT):** The drug **asfotase alfa** is the gold standard for moderate to severe pediatric HPP. Clinical studies show improved survival, stronger bone mineralization, and better motor function. - **Supportive care:** For milder forms, treatment may involve pain management, dental support, physical therapy, and close monitoring by a pediatric endocrinology team. Because HPP is lifelong, children often benefit from a **multidisciplinary care team**—including endocrinologists, geneticists, orthopedists, neurologists, and dentists. --- ## Long-Term Outlook With timely diagnosis and modern therapies, many children with hypophosphatasia can live healthier, more active lives. The key is **early recognition** and specialized care from experts who understand the nuances of this rare disorder. At **Life Pediatric Endocrinology**, we specialize in complex bone diseases like HPP. Families travel from across the U.S. to receive expert diagnosis, treatment, and compassionate care tailored to their child. --- ## Scheduling a Consultation If your child has unexplained fractures, premature tooth loss, persistently low alkaline phosphatase, or other concerning bone symptoms, it’s important to seek expert care. At **Life Pediatric Endocrinology**, our metabolic bone disease team, led by **Dr. Kelli Davis,** provides advanced evaluation, personalized treatment, and long-term support for children with rare bone conditions like hypophosphatasia. 👉 [Click here to schedule a consultation](https://lifeendo.com/contact) and learn how we can help your child achieve stronger, healthier growth. --- ## About the Author **Dr. Kelli Davis** is a **nationally recognized pediatric endocrinologist** specializing in bone disease and complex growth disorders. Dr. Davis completed her fellowship at Vanderbilt University, where she trained under world-renowned pediatric endocrinologist Dr. Jill Simmons, gaining advanced expertise in bone health and rare metabolic disorders and allowing her to help children with rare conditions like hypophosphatasia achieve healthier, more confident lives.   --- ## ![Child receiving care for hypophosphatasia enjoying healthy growth with family](https://24027084.fs1.hubspotusercontent-na1.net/hub/24027084/hubfs/child-living-with-hypophosphatasia-treatment.png?width=3200&height=1792&name=child-living-with-hypophosphatasia-treatment.png) ## References 1. Whyte MP, McAlister WH, Mack KE, Mumm S, Madson KL. *Pediatric Hypophosphatasia: Avoid Diagnosis Missteps!* J Bone Miner Res. 2024;39(6):655-660. doi:[10.1093/jbmr/zjae098.](https://pubmed.ncbi.nlm.nih.gov/38905292) 2. Rush E, Brandi ML, Khan A, et al. *Proposed Diagnostic Criteria for the Diagnosis of Hypophosphatasia in Children and Adolescents: Results From the HPP International Working Group.* Osteoporos Int. 2024;35(1):1-10. doi:[10.1007/s00198-023-06843-2.](https://pubmed.ncbi.nlm.nih.gov/37982855) 3. Seefried L, Genest F, Hofmann C, Brandi ML, Rush E. *Diagnosis and Treatment of Hypophosphatasia.* Calcif Tissue Int. 2025;116(1):46. doi:[10.1007/s00223-025-01356-y.](https://pubmed.ncbi.nlm.nih.gov/40047955) #### Share this [Share on X](https://x.com/intent/post?url=https://lifeendo.com/blog/what-is-hpp&text=What+is+Hypophosphatasia%3F) [Share on Facebook](https://www.facebook.com/sharer/sharer.php?u=https://lifeendo.com/blog/what-is-hpp&t=What+is+Hypophosphatasia%3F) [Share on LinkedIn](https://www.linkedin.com/shareArticle?mini=true&url=https://lifeendo.com/blog/what-is-hpp&t=What+is+Hypophosphatasia%3F) Previous story [← Understanding and Managing High Insulin Levels in Children](https://lifeendo.com/blog/understanding-and-managing-high-insulin-levels-in-children) Next story [What Is a Delayed Bone Age? Why It’s Not Always a Good Sign →](https://lifeendo.com/blog/what-is-a-delayed-bone-age-why-its-not-always-a-good-sign) ### You May Also Like These Related Stories [What Is Bone Disease? Understanding Causes, Symptoms, and Treatments](https://lifeendo.com/blog/what-is-bone-disease-understanding-causes-symptoms-and-treatments) ![what-is-bone-disease-symptoms-treatment-life-pediatric-endocrinology](https://24027084.fs1.hubspotusercontent-na1.net/hub/24027084/hubfs/what-is-bone-disease-symptoms-treatment-life-pediatric-endocrinology.png?width=1472&height=832&name=what-is-bone-disease-symptoms-treatment-life-pediatric-endocrinology.png) [Bone Disease](https://lifeendo.com/blog/tag/bone-disease) #### What Is Bone Disease? Understanding Causes, Symptoms, and Treatments Aug 19, 2025 4 min read [Hypophosphatasia (HPP): Diagnosis and Treatment with Asfotase Alfa](https://lifeendo.com/blog/hypophosphatasia-hpp-diagnosis-treatment-dr-kelli-davis) ![hypophosphatasia-hpp-asfotase-alfa-treatment-dr-kelli-davis-1](https://24027084.fs1.hubspotusercontent-na1.net/hub/24027084/hubfs/hypophosphatasia-hpp-asfotase-alfa-treatment-dr-kelli-davis-1.png?width=2240&height=1260&name=hypophosphatasia-hpp-asfotase-alfa-treatment-dr-kelli-davis-1.png) [Bone Disease](https://lifeendo.com/blog/tag/bone-disease) #### Hypophosphatasia (HPP): Diagnosis and Treatment with Asfotase Alfa Oct 7, 2025 4 min read [What Are The Symptoms of Bone Disease?](https://lifeendo.com/blog/what-are-the-symptoms-of-bone-disease) ![symptoms-of-bone-disease-child-xray](https://24027084.fs1.hubspotusercontent-na1.net/hub/24027084/hubfs/symptoms-of-bone-disease-child-xray.png?width=2944&height=1664&name=symptoms-of-bone-disease-child-xray.png) [Bone Disease](https://lifeendo.com/blog/tag/bone-disease) #### What Are The Symptoms of Bone Disease? Aug 22, 2025 3 min read ### Get Email Notifications Our care team believes in individualized pediatric endocrine and diabetes care that allows a child to thrive and live fully. Life Pediatric Endocrinology was created for children and their parents to feel secure to live their best life with our specialized, direct access care. Resources - [Read our blog](https://lifeendo.com/blog) - [Patient Resources](https://lifeendo.com/patients) Company - [About us](https://lifeendo.com/about) - [Locations](https://lifeendo.com/locations) - [Join our team](https://lifeendo.com/join-our-team) - [Contact us](https://lifeendo.com/contact) Downloads - [Medical Weight Loss Info Sheet](https://lifeendo.com/pediatric-medical-weight-loss-brochure) - [Concierge Membership Brochure](https://lifeendo.com/concierge-brochure) Copyright © 2026 Life Pediatric Endocrinology   [Privacy Policy](https://lifeendo.com/privacy-policy) ```json { "@context" : "https://schema.org", "@type" : "BlogPosting", "author" : { "@type" : "Person", "name" : "Dr. Kelli Davis", "url" : "https://lifeendo.com/blog/author/dr-kelli-davis" }, "dateModified" : "2025-09-10T02:56:30.635Z", "datePublished" : "2025-09-10T02:56:30.000Z", "headline" : "What is Hypophosphatasia?", "image" : [ "https://lifeendo.com/hubfs/dr-kelli-davis-hypophosphatasia-expert-2.png" ], "mainEntityOfPage" : { "@id" : "https://lifeendo.com/blog/what-is-hpp", "@type" : "WebPage" }, "publisher" : { "@type" : "Organization", "logo" : { "@type" : "ImageObject", "url" : "https://lifeendo.com/hubfs/website-header-logo.png" }, "name" : "Life Pediatric Endocrinology, LLC" } } ```