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Niemann-Pick disease type A

Niemann-Pick disease is an inherited condition characterized by abnormal lipid metabolism, which causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain

Prevalence

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331

US Estimated

514

Europe Estimated

Age of Onset

ICD-10

E75.2

Inheritance

Autosomal dominant

Autosomal recessive

Mitochondrial/Multigenic

X-linked dominant

X-linked recessive

5 Facts you should know

FACT

1

Type A is the most severe form

 

FACT

2

It begins in early infancy and occurs most often in Jewish families

 

FACT

3

Additional symptoms include weakness, an enlarged liver and spleen, swollen lymph nodes, and profound brain damage by six months of age

 

FACT

4

Children with this type rarely live beyond 18 months

 

FACT

5

Mutations in the SMPD1 gene cause Niemann–Pick disease type A

 

Interest over time

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Niemann-Pick disease type A is also known as...

Niemann-Pick disease type A is also known as:

  • Niemann-Pick disease type IIA
  • Acid sphingomyelinase deficiency type A
  • NPA
  • ASMD type A

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Common signs & symptoms

Cherry red spot of the macula

Athetosis

Autosomal recessive inheritance

Bone-marrow foam cells

Constipation

Diffuse reticular or finely nodular infiltrations

Failure to thrive

Feeding difficulties in infancy

Current treatments

There is no specific treatment for this disease. Supportive care from the following specialists may be helpful for managing the symptoms:

A pulmonologist for respiratory problems

A cardiologist for heart problems

Liver and spleen specialists

Nutritionists

Physical therapists

A gastroenterologist

Top Clinical Trials

Top Treatments in Research

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