Newborn screening for Gaucher disease in Japan.

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Gaucher disease (GD) is an inherited metabolic disorder resulting from a glucocerebrosidase (GCase) deficiency.
• Current treatments for neurological symptoms in GD are limited, and distinguishing between GD types can be difficult.
• Newborn screening (NBS) for GD is not widely implemented in Japan, despite a higher prevalence of neurological GD cases compared to Western countries.

Purpose of the Study:

• To evaluate the feasibility and findings of newborn screening (NBS) for Gaucher disease (GD) in Japan.
• To determine the incidence of GD through NBS and compare it with previous estimates.
• To gain insights into the clinical course of GD patients identified via NBS.

Main Methods:

• Conducted NBS for Fabry disease, Pompe disease, and GD on 155,442 newborns, primarily in the Kyushu region of Japan.
• Utilized an enzyme activity assay on dried blood spots for initial screening of GCase activity.
• Confirmed GD diagnoses through GBA gene analysis for newborns with low GCase activity.

Main Results:

• Identified four newborns with low GCase activity, subsequently diagnosed with GD via genetic analysis.
• Determined the incidence of GD through NBS to be approximately 1 in 77,720 live births.
• The observed frequency of GD via NBS in this study is higher than previously reported estimates for Japan.

Conclusions:

• Newborn screening (NBS) for Gaucher disease (GD) in Japan reveals a higher incidence than previously thought.
• Widespread NBS for GD is anticipated to increase early detection rates across Japan.
• Early diagnosis and intervention through NBS can substantially enhance the quality of life and longevity for infants with GD.