Hypophosphatasia / Disease

Diseases & Conditions

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Hypophosphatasia

Synonyms of Hypophosphatasia

HHRH
Hypercalciuric Rickets
Hypophosphatemic Rickets with Hypercalcemia

Disorder Subdivisions

Hypophasphatasia, Childhood
Hypophasphatasia, Infantile
Hypophosphatasia, Adult
Pseudohypophosphatasia

General Discussion
Hypophosphatasia is a inborn metabolic disorder of the bones characterized by skeletal defects resembling those of rickets. The symptoms result from a failure of bone mineral to be deposited in young, uncalcified bone (osteoid), and in the cartilage at the end of the long bones (epiphyses) during early years. The activity of the enzyme alkaline phosphatase in blood serum and bone cells is lower than normal. Urinary excretion and blood plasma concentrations of phosphoethanolamine and inorganic pyrophosphate are abnormally high. Unlike other forms of rickets, Hypophosphatasia does not respond to treatment with vitamin D.

Organizations related to Hypophosphatasia

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: [email protected]
Home page: http://www.CLIMB.org.uk
MAGIC Foundation for Children's Growth
6645 W. North Avenue
Oak Park IL 60302
Phone #: 708-383-0808
800 #: 800-362-4423
e-mail: [email protected]
Home page: http://www.magicfoundation.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: [email protected]
Home page: http://www.netnet.net/mums/
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
e-mail: [email protected]
Home page: http://www.marchofdimes.com
NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda MD 20892-3675
Phone #: 301-495-4484
800 #: 877-226-4267
e-mail: [email protected]
Home page: http://www.niams.nih.gov/Health_Info
Williams Syndrome Foundation
161 High Street
Tonbridge None TN9 1BX
Phone #: 017-32 -365152
800 #: --
e-mail: [email protected]
Home page: http://www.williams-syndrome.org.uk
XLH Network Inc.
4562 Stoneledge Lane
Manlius NY 13104
Phone #: 315-682-2659
800 #: --
e-mail: [email protected]
Home page: http://www.xlhnetwork.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html