[Ad] This S’porean dad knew something was up when his then 3-year-old daughter Zecia's bloated stomach persisted for over a year & bruises swelled without fading. After seeing multiple doctors, they found out she had a rare disease.
Find out how taking action early is making a difference in her life today.
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Gaucher disease
More than 380 mutations in the GBA gene have been identified in people with Gaucher disease, a disorder with varied features that affect many parts of the body. Affected individuals can have enlargement of the liver and spleen (hepatosplenomegaly), blood cell abnormalities, and rarely, severe neurological problems. The mutations occur in both copies of the gene in each cell. Most of the GBA gene mutations responsible for Gaucher disease change single protein building blocks (amino acids) in beta-glucocerebrosidase, altering the structure of the enzyme and preventing it from working normally. Other mutations delete or insert genetic material in the GBA gene or lead to the production of an abnormally short, nonfunctional version of the enzyme.
Mutations in the GBA gene greatly reduce or eliminate the activity of beta-glucocerebrosidase in cells. As a result, glucocerebroside is not broken down properly. This molecule and related substances can build up in white blood cells called macrophages in the spleen, liver, bone marrow, and other organs. The abnormal accumulation and storage of these substances damages tissues and organs, causing the characteristic features of Gaucher disease.
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Autosomal recessive inheritance pattern
To have an autosomal recessive disorder, you inherit two changed genes, sometimes called mutations. You get one from each parent. Their health is rarely affected because they have only one changed gene. Two carriers have a 25% chance of having an unaffected child with two unaffected genes (left). They have a 50% chance of having an unaffected child who also is a carrier (middle). They have a 25% chance of having an affected child with two changed genes (right).
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