Gaucher disease (GD) is among the most prevalent, recessively inherited, lysosomal storage disorders (LSDs). A deficiency in the enzyme β-glucocerebrosidase causes it. Deficient enzymatic activity causes glucosylceramide, the enzyme’s substate, to accumulate in cellular lysosomes, most prominently in macrophages. These glycosphingolipid-laden macrophages are called Gaucher cells. They build up in visceral tissues, liver, spleen, and bone marrow. The accumulation causes an array of symptoms, including hepatosplenomegaly and pancytopenia. It also causes bone complications such as non-specific bone pain, bone crises, avascular necrosis, and pathologic fractures.

Gaucher’s Disease Types

Type 1 – Non-neuronopathic – mild to severe, may appear anytime from childhood to adulthood. Symptoms: Hepatosplenomegaly, anemia, thrombocytopenia, bone abnormalities, lung disease

Type 2 and 3 – Neuronopathic forms – affect the central nervous system—symptoms: Seizures, abnormal eye movement, brain damage apart from those mentioned above in Type 1. Type 3 worsens more slowly than type 2.

Perinatal lethal form – severe or life-threatening complications starting before birth or in infancy. Symptoms: hydrops fetalis, ichthyosis/skin abnormalities

Cardiovascular type – Primarily affects the heart causing calcification of heart valves.

Gaucher’s Disease Test & Therapy

Biochemical test: Beta-glucocerebrosidase
Biomarker: Glucosylsphingosine (Lyso-Gb1) + Glucosylceramide (GlucCer)
Cerezyme (imiglucerase - sanofi) /VPRIV (velaglucerase alfa – Shire HGT) /Elelyso (taliglucerase alfa - Protalix) – ERT
Cerdelga (eliglustat) /Zavesca (miglustat) – Substrate Reduction Therapy
Gene: GBA

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