Chronic visceral acid sphingomyelinase deficiency (also known as Niemann-Pick disease type C) is a rare, inherited metabolic disorder that affects the body's ability to metabolize lipids (fats). It is caused by a deficiency of the enzyme sphingomyelinase, which is responsible for breaking down sphingomyelin, a type of fat found in cell membranes. Symptoms of the disorder can include enlarged liver and spleen, difficulty swallowing, seizures, and progressive neurological decline.

The symptoms of Chronic visceral acid sphingomyelinase deficiency (also known as Niemann-Pick Disease Type C) vary from person to person, but can include:

-Liver enlargement

-Spleen enlargement

-Lung problems
-Developmental delays
-Movement problems
-Difficulty swallowing
-Seizures
-Cognitive impairment
-Behavioral problems
-Vision problems
-Hearing loss
-Loss of coordination
-Fatigue
-Weight loss
-Frequent infections
-Enlarged lymph nodes
-Abnormal blood cholesterol levels
-Abnormal blood sugar levels
-Abnormal liver function tests

Chronic visceral acid sphingomyelinase deficiency is caused by mutations in the SMPD1 gene, which provides instructions for making an enzyme called acid sphingomyelinase. This enzyme is involved in the breakdown of a type of fat molecule called sphingomyelin. Mutations in the SMPD1 gene reduce or eliminate the activity of acid sphingomyelinase, leading to an accumulation of sphingomyelin in cells throughout the body. This accumulation of sphingomyelin is thought to cause the signs and symptoms of chronic visceral acid sphingomyelinase deficiency.

The primary treatment for Chronic visceral acid sphingomyelinase deficiency is enzyme replacement therapy (ERT). This involves intravenous infusions of the missing enzyme, which helps to reduce the accumulation of sphingomyelin in the body. Other treatments may include dietary modifications, such as avoiding foods high in saturated fats, and medications to reduce inflammation and improve the absorption of nutrients. In some cases, bone marrow transplantation may be recommended.

1. Genetic predisposition: Chronic visceral acid sphingomyelinase deficiency is an inherited disorder caused by mutations in the SMPD1 gene.

2. Age: The disorder is more common in infants and young children.

3. Gender: Males are more likely to be affected than females.

4. Ethnicity: The disorder is more common in individuals of Ashkenazi Jewish descent.

Yes, there is a medication available for Chronic visceral acid sphingomyelinase deficiency. It is called enzyme replacement therapy (ERT). ERT involves the intravenous infusion of a recombinant form of the deficient enzyme, which helps to reduce the symptoms of the disorder. Additionally, supportive care such as dietary modifications, physical therapy, and medications to reduce inflammation may be recommended.