Atypical Gaucher disease due to saposin C deficiency is a rare, inherited disorder caused by a mutation in the GBA gene. This mutation results in a deficiency of the enzyme saposin C, which is responsible for breaking down certain fats in the body. People with this disorder experience a wide range of symptoms, including an enlarged spleen and liver, bone abnormalities, and neurological problems. Treatment typically involves enzyme replacement therapy and other supportive measures.

The symptoms of Atypical Gaucher disease due to saposin C deficiency can vary from person to person, but may include:

-Developmental delay
-Seizures
-Movement disorders
-Cognitive impairment
-Feeding difficulties
-Growth failure
-Hepatosplenomegaly (Enlarged liver and spleen)
-Bone abnormalities
-Eye abnormalities
-Skin abnormalities
-Hearing loss
-Respiratory problems
-Cardiac abnormalities
-Gastrointestinal problems
-Endocrine abnormalities

Atypical Gaucher disease due to saposin C deficiency is caused by mutations in the SGPL1 gene. This gene provides instructions for making a protein called saposin C, which is involved in the breakdown of certain fats (lipids) in the body. Mutations in the SGPL1 gene reduce or eliminate the production of saposin C, leading to an accumulation of lipids in cells and tissues throughout the body. This accumulation of lipids causes the signs and symptoms of atypical Gaucher disease.

1. Enzyme Replacement Therapy (ERT): This is the primary treatment for Atypical Gaucher disease due to saposin C deficiency. ERT involves intravenous infusions of a recombinant form of the enzyme glucocerebrosidase, which helps to break down the fatty substances that accumulate in the body due to the deficiency.

2. Substrate Reduction Therapy (SRT): This is a newer treatment option for Atypical Gaucher disease due to saposin C deficiency. SRT involves taking medications that reduce the amount of fatty substances that accumulate in the body due to the deficiency.

3. Bone Marrow Transplantation: This is a more aggressive treatment option for Atypical Gaucher disease due to saposin C deficiency. It involves replacing the patient's bone marrow with healthy bone marrow from a donor

1. Genetic mutation in the SGPL1 gene
2. Family history of Atypical Gaucher disease
3. Being of Ashkenazi Jewish descent
4. Being of African-American descent
5. Being of Hispanic descent
6. Being of Mediterranean descent
7. Being of Middle Eastern descent
8. Being of South Asian descent
9. Being of Southeast Asian descent
10. Being of East Asian descent

Yes, there is a medication available for Atypical Gaucher disease due to saposin C deficiency. The medication is called eliglustat tartrate and it is used to reduce the amount of certain fatty substances in the body. It is taken orally and is available in capsule form. It is important to note that this medication is not a cure for Atypical Gaucher disease, but it can help to reduce the symptoms and slow the progression of the disease.