Infantile neurovisceral acid sphingomyelinase deficiency (also known as Niemann-Pick disease type A) is a rare, inherited metabolic disorder that affects the body's ability to break down certain fats called sphingomyelin. This leads to an accumulation of sphingomyelin in the cells of the body, particularly in the brain, liver, and spleen. Symptoms of this disorder can include developmental delays, seizures, difficulty swallowing, and an enlarged liver and spleen. Treatment typically involves dietary changes, enzyme replacement therapy, and supportive care.

The symptoms of Infantile Neurovisceral Acid Sphingomyelinase Deficiency (also known as Niemann-Pick Disease Type A) can vary depending on the age of the individual. In infants, the most common symptoms include:

- Poor feeding

- Vomiting

- Failure to gain weight

- Jaundice

- Enlarged liver and spleen

- Swelling of the face and extremities

- Seizures

- Developmental delays

- Difficulty breathing

- Abnormal eye movements

- Cherry-red spots in the eyes

- Hearing loss

- Difficulty swallowing

- Muscle weakness

- Difficulty walking

- Abnormal gait

- Behavioral changes

- Cognitive impairment

- Speech delays

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Infantile neurovisceral acid sphingomyelinase deficiency (also known as Niemann-Pick disease type A) is caused by a genetic mutation in the SMPD1 gene, which is responsible for producing the enzyme acid sphingomyelinase. This enzyme is responsible for breaking down a type of fat called sphingomyelin, which is found in the cells of the body. Without this enzyme, sphingomyelin accumulates in the cells, leading to the symptoms of Niemann-Pick disease type A.

The primary treatment for infantile neurovisceral acid sphingomyelinase deficiency is enzyme replacement therapy (ERT). ERT involves intravenous infusions of the missing enzyme, which helps to reduce the accumulation of sphingomyelin in the body. Other treatments may include dietary modifications, physical therapy, and medications to reduce inflammation and improve organ function. In some cases, a bone marrow transplant may be recommended.

1. Genetic mutation: Infantile neurovisceral acid sphingomyelinase deficiency is caused by a genetic mutation in the SMPD1 gene.

2. Family history: Individuals with a family history of the disorder are at an increased risk of developing the condition.

3. Ethnicity: Infantile neurovisceral acid sphingomyelinase deficiency is more common in individuals of Ashkenazi Jewish descent.

4. Gender: The disorder is more common in males than females.

Yes, there is a cure for Infantile Neurovisceral Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type A). The only available treatment is enzyme replacement therapy (ERT) with recombinant human acid sphingomyelinase (rhASM). This therapy is administered intravenously every two weeks and has been shown to improve the symptoms of Niemann-Pick Disease Type A. Additionally, medications such as hydroxyurea, miglustat, and cholestyramine may be used to help manage symptoms.