Effect of asfotase alfa on muscle weakness in a Japanese adult patient of hypophosphatasia with low ALP levels

Hiroyuki Koyama; Satoshi Yasuda; Shota Kakoi; Yasuhisa Ohata; Yuki Shimizu; Chie Hasegawa; Akiko Hayakawa; Tomoyuki Akiyama; Takashi Yagi; Daisuke Aotani; Kenro Imaeda; Keiichi Ozono; Hiromi Kataoka; Tomohiro Tanaka

doi:10.2169/internalmedicine.3668-19

Effect of asfotase alfa on muscle weakness in a Japanese adult patient of hypophosphatasia with low ALP levels

Hiroyuki Koyama, Satoshi Yasuda, Shota Kakoi, Yasuhisa Ohata, Yuki Shimizu, Chie Hasegawa, Akiko Hayakawa, Tomoyuki Akiyama, Takashi Yagi, Daisuke Aotani, Kenro Imaeda, Keiichi Ozono, Hiromi Kataoka, Tomohiro Tanaka

Research output: Contribution to journal › Article › peer-review

6 Citations (Scopus)

Abstract

A 40-year-old Japanese woman presented to our hospital with general fatigue and muscle weakness. She had a history of premature loss of deciduous teeth at 4 years old, her serum alkaline phosphatase (ALP) activity was as low as 91 U/L, and radiologic studies revealed thoracic deformity and sacroiliac calcification. Genetic sequencing revealed a heterozygous c.1559delT mutation in the tissue non-specific alkaline phosphatase gene (ALPL). Based on these findings, she was diagnosed with hypophosphatasia (HPP), and treatment with asfotase alfa, a recombinant human tissue-nonspecific alkaline phosphatase (TNSALP), was initiated. After six months of treatment with asfotase alfa, improvements were observed in the SF-36 score, six-minute walk distance, and grasping power. Although the overdiagnosis needs to be avoided, HPP should be considered in patients with undiagnosed musculoskeletal symptoms and a low serum ALP activity.

Original language	English
Pages (from-to)	811-815
Number of pages	5
Journal	Internal Medicine
Volume	59
Issue number	6
DOIs	https://doi.org/10.2169/internalmedicine.3668-19
Publication status	Published - Mar 15 2020

Keywords

Alkaline phosphatase
Asfotase alfa
Bone metabolism
Hypophosphatasia

ASJC Scopus subject areas

Internal Medicine

Access to Document

10.2169/internalmedicine.3668-19

Cite this

Koyama, H., Yasuda, S., Kakoi, S., Ohata, Y., Shimizu, Y., Hasegawa, C., Hayakawa, A., Akiyama, T., Yagi, T., Aotani, D., Imaeda, K., Ozono, K., Kataoka, H., & Tanaka, T. (2020). Effect of asfotase alfa on muscle weakness in a Japanese adult patient of hypophosphatasia with low ALP levels. Internal Medicine, 59(6), 811-815. https://doi.org/10.2169/internalmedicine.3668-19

Koyama, H, Yasuda, S, Kakoi, S, Ohata, Y, Shimizu, Y, Hasegawa, C, Hayakawa, A, Akiyama, T, Yagi, T, Aotani, D, Imaeda, K, Ozono, K, Kataoka, H & Tanaka, T 2020, 'Effect of asfotase alfa on muscle weakness in a Japanese adult patient of hypophosphatasia with low ALP levels', Internal Medicine, vol. 59, no. 6, pp. 811-815. https://doi.org/10.2169/internalmedicine.3668-19

@article{3ee45528fe88430f96241d43d922bffe,

title = "Effect of asfotase alfa on muscle weakness in a Japanese adult patient of hypophosphatasia with low ALP levels",

abstract = "A 40-year-old Japanese woman presented to our hospital with general fatigue and muscle weakness. She had a history of premature loss of deciduous teeth at 4 years old, her serum alkaline phosphatase (ALP) activity was as low as 91 U/L, and radiologic studies revealed thoracic deformity and sacroiliac calcification. Genetic sequencing revealed a heterozygous c.1559delT mutation in the tissue non-specific alkaline phosphatase gene (ALPL). Based on these findings, she was diagnosed with hypophosphatasia (HPP), and treatment with asfotase alfa, a recombinant human tissue-nonspecific alkaline phosphatase (TNSALP), was initiated. After six months of treatment with asfotase alfa, improvements were observed in the SF-36 score, six-minute walk distance, and grasping power. Although the overdiagnosis needs to be avoided, HPP should be considered in patients with undiagnosed musculoskeletal symptoms and a low serum ALP activity.",

keywords = "Alkaline phosphatase, Asfotase alfa, Bone metabolism, Hypophosphatasia",

author = "Hiroyuki Koyama and Satoshi Yasuda and Shota Kakoi and Yasuhisa Ohata and Yuki Shimizu and Chie Hasegawa and Akiko Hayakawa and Tomoyuki Akiyama and Takashi Yagi and Daisuke Aotani and Kenro Imaeda and Keiichi Ozono and Hiromi Kataoka and Tomohiro Tanaka",

note = "Publisher Copyright: {\textcopyright} 2020 The Japanese Society of Internal Medicine",

year = "2020",

month = mar,

day = "15",

doi = "10.2169/internalmedicine.3668-19",

language = "English",

volume = "59",

pages = "811--815",

journal = "Internal Medicine",

issn = "0918-2918",

publisher = "Japanese Society of Internal Medicine",

number = "6",

}

TY - JOUR

T1 - Effect of asfotase alfa on muscle weakness in a Japanese adult patient of hypophosphatasia with low ALP levels

AU - Koyama, Hiroyuki

AU - Yasuda, Satoshi

AU - Kakoi, Shota

AU - Ohata, Yasuhisa

AU - Shimizu, Yuki

AU - Hasegawa, Chie

AU - Hayakawa, Akiko

AU - Akiyama, Tomoyuki

AU - Yagi, Takashi

AU - Aotani, Daisuke

AU - Imaeda, Kenro

AU - Ozono, Keiichi

AU - Kataoka, Hiromi

AU - Tanaka, Tomohiro

PY - 2020/3/15

Y1 - 2020/3/15

N2 - A 40-year-old Japanese woman presented to our hospital with general fatigue and muscle weakness. She had a history of premature loss of deciduous teeth at 4 years old, her serum alkaline phosphatase (ALP) activity was as low as 91 U/L, and radiologic studies revealed thoracic deformity and sacroiliac calcification. Genetic sequencing revealed a heterozygous c.1559delT mutation in the tissue non-specific alkaline phosphatase gene (ALPL). Based on these findings, she was diagnosed with hypophosphatasia (HPP), and treatment with asfotase alfa, a recombinant human tissue-nonspecific alkaline phosphatase (TNSALP), was initiated. After six months of treatment with asfotase alfa, improvements were observed in the SF-36 score, six-minute walk distance, and grasping power. Although the overdiagnosis needs to be avoided, HPP should be considered in patients with undiagnosed musculoskeletal symptoms and a low serum ALP activity.

AB - A 40-year-old Japanese woman presented to our hospital with general fatigue and muscle weakness. She had a history of premature loss of deciduous teeth at 4 years old, her serum alkaline phosphatase (ALP) activity was as low as 91 U/L, and radiologic studies revealed thoracic deformity and sacroiliac calcification. Genetic sequencing revealed a heterozygous c.1559delT mutation in the tissue non-specific alkaline phosphatase gene (ALPL). Based on these findings, she was diagnosed with hypophosphatasia (HPP), and treatment with asfotase alfa, a recombinant human tissue-nonspecific alkaline phosphatase (TNSALP), was initiated. After six months of treatment with asfotase alfa, improvements were observed in the SF-36 score, six-minute walk distance, and grasping power. Although the overdiagnosis needs to be avoided, HPP should be considered in patients with undiagnosed musculoskeletal symptoms and a low serum ALP activity.

KW - Alkaline phosphatase

KW - Asfotase alfa

KW - Bone metabolism

KW - Hypophosphatasia

UR - http://www.scopus.com/inward/record.url?scp=85081671777&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85081671777&partnerID=8YFLogxK

U2 - 10.2169/internalmedicine.3668-19

DO - 10.2169/internalmedicine.3668-19

M3 - Article

C2 - 31813912

AN - SCOPUS:85081671777

SN - 0918-2918

VL - 59

SP - 811

EP - 815

JO - Internal Medicine

JF - Internal Medicine

IS - 6

ER -

Effect of asfotase alfa on muscle weakness in a Japanese adult patient of hypophosphatasia with low ALP levels

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this