Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group.

doi:10.1007/s00198-023-06843-2

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Article

Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA - 1 Jan 2024

Rush Eric, Brandi Maria Luisa, Khan Aliya, Ali Dalal S, Al-Alwani Hatim, Almonaei Khulod, Alsarraf Farah, Bacrot Severine, Dahir Kathryn M, Dandurand Karel, Deal Chad, Ferrari Serge Livio, Giusti Francesca, Guyatt Gordon, Hatcher Erin, Ing Steven W, Javaid Muhammad Kassim, Khan Sarah, Kocijan Roland, Lewiecki E Michael, Linglart Agnes, M'Hiri Iman, Marini Francesca, Nunes Mark E, Rockman-Greenberg Cheryl, Roux Christian, Seefried Lothar, Starling Susan R, Ward Leanne, Yao Liang, Brignardello-Petersen Romina, Simmons Jill H

Abstract excerpt

Hypophosphatasia (HPP) is a rare inborn error of metabolism that presents variably in both age of onset and severity. HPP is caused by pathogenic variants in the ALPL gene, resulting in low activity of tissue nonspecific alkaline phosphatase (TNSALP). Patients with HPP tend have a similar pattern of elevation of natural substrates that can be used to aid in diagnosis. No formal diagnostic guidelines currently...

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PMID: 37982855
DOI: 10.1007/s00198-023-06843-2
PMCID: PMC10786745

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