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Article

Adult hypophosphatasia with a single heterozygous c.572A > G p.Glu191Gly mutation in the ALPL gene: Case report.

Modern rheumatology case reports - 29 Jun 2026

Hyakuna Kota, Iwata Shigeru, Nishikawa Taro, Ueno Kodai, Shimomura Yuta, Sonoda Takeru, Kato Takashi, Matsumiya Ryo, Fujii Takao

Abstract excerpt

Adult-onset hypophosphatasia manifests after age 18, and is characterised by reduced tissue-nonspecific alkaline phosphatase activity. This can lead to fractures, pseudo-fractures, osteomalacia, decreased bone density (bone loss), muscle weakness, myalgia, arthralgia, headache, dental symptoms (loss of permanent teeth, periodontal disease), and pseudogout. Over 480 distinct genetic mutations have been identified...

Read the complete abstract on PubMed

Topics

Humans
Hypophosphatasia
Female
Alkaline Phosphatase
Adult
Heterozygote

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Mutation, Missense

Mutation

Ethanolamines

Source

Identifiers

PMID: 42644750
DOI: 10.1093/mrcr/rxag082

Genes

ALPL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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