Clinical and genetic aspects of mild hypophosphatasia in Japanese patients.

ABSTRACT:

Background

Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from a dysfunctional tissue non-specific alkaline phosphatase enzyme (TNSALP). Although genotype-phenotype correlations have been described in HPP patients, only sparse information is currently available on the genetics of mild type HPP.

Methods

We investigated 5 Japanese patients from 3 families with mild HPP (patients 1 and 2 are siblings; patient 4 is a daughter of patient 5) who were referred to Fujita Health University due to the premature loss of deciduous teeth. Physical and dental examinations, and blood, urine and bone density tests were conducted. Genetic analysis of the ALPL gene was performed in all patients with their informed consent.

Results

After a detailed inter

SUBMITTER: Yokoi K 

PROVIDER: S-EPMC6796780 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature