Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Hypophosphatasia Differential Diagnoses

  • Author: Horacio B Plotkin, MD, FAAP; Chief Editor: Luis O Rohena, MD  more...
 
Updated: Dec 11, 2015
 
 
 
Contributor Information and Disclosures
Author

Horacio B Plotkin, MD, FAAP Chief Medical Officer, Retrophin, Inc; Adjunct Associate Professor of Pediatrics and Orthopedic Surgery, University of Nebraska College of Medicine

Horacio B Plotkin, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Received salary from Retrophin, Inc for management position.

Coauthor(s)

George A Anadiotis, DO Consulting Staff, Department of Pediatric Rehabilitation and Development, Division of Clinical and Biochemical Genetics, Emmanuel Children's Hospital

George A Anadiotis, DO is a member of the following medical societies: American Medical Association, American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Luis O Rohena, MD Chief, Medical Genetics, San Antonio Military Medical Center; Assistant Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Assistant Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Additional Contributors

James Bowman, MD Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago

James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society for Clinical Pathology, American Society of Human Genetics, Central Society for Clinical and Translational Research, College of American Pathologists

Disclosure: Nothing to disclose.

References
  1. Nishioka T, Tomatsu S, Gutierrez MA, et al. Enhancement of drug delivery to bone: characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide. Mol Genet Metab. 2006 Jul. 88(3):244-55. [Medline].

  2. Fraser D. Hypophosphatasia. Am J Med. 1957 May. 22(5):730-46. [Medline].

  3. Balasubramaniam S, Bowling F, Carpenter K, et al. Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability. J Inherit Metab Dis. 2010. Epub:[Medline].

  4. [Guideline] Jenny C. Evaluating infants and young children with multiple fractures. Pediatrics. 2006 Sep. 118(3):1299-303. [Medline].

  5. Girschick HJ, Mornet E, Beer M, Warmuth-Metz M, Schneider P. Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy. BMC Pediatr. Jan 2007. 7:[Medline].

  6. Rauch F, Greenberg C, Whyte MP, et al. The Bone Tissue Defect in Children with Hypophosphatasia: Histomorphometric Study. Proceedings of the 33 Annual ASBMR Meeting. 2011.

  7. Whyte MP, Greenberg CR, Salman NJ, et al. Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med. 2012 Mar 8. 366(10):904-13. [Medline].

  8. Whyte MP, Rockman-Greenberg C, Ozono K, Riese R, Moseley S, Melian A, et al. Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia. J Clin Endocrinol Metab. 2015 Nov 3. jc20153462. [Medline].

  9. Okazaki Y, Kitajima H, Mochizuki N, Kitaoka T, Michigami T, Ozono K. Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth. Eur J Pediatr. 2015 Oct 12. [Medline].

  10. Millan JL, Narisawa S, Lemire I, et al. Enzyme replacement therapy for murine hypophosphatasia. J Bone Miner Res. 2008 Jun. 23(6):777-87. [Medline]. [Full Text].

  11. Kishnani PS, Rockman CR, Whyte MP et al. Hypophosphatasia: Enzyme Replacement Therapy (ENB-0040) Decreases TNSALP Substrate Accumulation and Improves Functional Outcome in Affected Adolescents and Adults. Proceedings of American College of Medical Genetics. 2012. 303.

  12. Ozono K. [Biomineralization. Enzyme replacement therapy for hypophosphatasia]. Clin Calcium. 2014. 24(2):257-63. [Medline].

  13. Oda K, Kinjoh NN, Sohda M, Komaru K, Amizuka N. Biomineralization. Tissue-nonspecific alkaline phosphatase and hypophosphatasia. Clin Calcium. 2014. 24:233-239. [Medline].

  14. Gagnon C, Sims NA, Mumm S, et al. Lack of Sustained Response to Teriparatide in a Patient with Adult Hypophosphatasia. J Clin Endocrinol Metab. 2010. Epub:[Medline].

  15. Cahill RA, Wenkert D, Perlman SA, et al. Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts. J Clin Endocrinol Metab. Aug 2007. 92:2923-30. [Medline].

  16. Plecko B, Stockler S. Vitamin B6 dependent seizures. Can J Neurol Sci. 2009. 36:S73-7. [Medline].

  17. van den Bos T, Handoko G, Niehof A, et al. Cementum and dentin in hypophosphatasia. J Dent Res. 2005 Nov. 84(11):1021-5. [Medline].

  18. Whyte MP. Enzyme defects and the skeleton. Primer on the metabolic bone diseases and disorders of mineral metabolism. 7th ed. 2008. 454-455.

  19. Whyte MP. Hypophosphatasia. The metabolic & molecular bases of inherited disease. 8th ed. 2001. 5313-29.

  20. Whyte MP, Kurtzberg J, McAlister WH, et al. Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res. 2003 Apr. 18(4):624-36. [Medline].

Previous
Next
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.