Key takeaways Gaucher diseases (GD) are lysosomal storage disorders (LSD) associated with or without neuropathic signs. These are inherited forms of metabolic disorder that are caused due to a deficiency in the glucocerebrosidase enzymatic activity. All the forms of GD follow autosomal recessive patterns of inheritance. Perinatal lethal Gaucher disease or fetal Gaucher disease is a rare and severe form of type 2 GD, also denoted as acute neuropathic Gaucher disease.
There is no definite treatment for Perinatal lethal Gaucher disease; however, early diagnosis plays a vital role in the management. Epidemiology Incidence rate: <5% among all other GD 1 Early infancy onset Non-gender specific No ethnic prevalence Etiology Genetic mutation in the GBA gene (1q21) that is responsible for encoding the lysosomal enzyme – glucocerebrosidase. 1,2 Pathophysiology Lysosomes are the major digestive…
