ABSTRACT

Gaucher disease is a rare condition where the body can't break down certain fats properly. This can lead to tiredness, bone pain, and swelling in organs like the liver and spleen. With early diagnosis and treatment, life can be much easier for those affected and that typically manifests early in childhood and is characterized by injury to multiple organ systems and most prominently. This review discusses the analysis of genetics, new research tools for Gaucher disease, and biomarker research. Gaucher disease (GD) comes in three types, mainly based on how it affects the brain—but in real life, symptoms can vary a lot from person to person. Some have no brain issues, while others may show severe or slow-developing symptoms. Since GD is rare and often looks like other illnesses, it can take time to get the right diagnosis. A more personal, flexible approach can help manage it better and improve outcomes. This systematic review shows that glucosylsphingosine is the best biomarker for diagnosing the condition, keeping track of how it gets worse, and making decisions about treatment in kids. Lack of the enzyme glucocerebrosidase causes Gaucher's disease, which is the most prevalent lysosomal storage disorder. Keywords: Bio marker, Glucosylsphingosine, Gaucher’s disease, Glucocerebrosidase
Publication date: 01/09/2026

https://www.ijbpas.com/pdf/2026/September/MS_IJBPAS_2026_10419.pdf

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https://doi.org/10.31032/IJBPAS/2026/15.9.10419