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What is Niemann-Pick disease, type A?

What is Niemann-Pick disease, type A?

  • Niemann-Pick disease, type A: Niemann-Pick disease is an inherited metabolic disorder where lipids are not able to be metabolized adequately and hence build up and cause damage in various parts of the body such as the spleen, liver, lungs, bone marrow and brain. The different types of the disease are due to different genetic mutations. Type A is a severe infantile form in which death usually occurs by early childhood.
  • Niemann-Pick disease, type A: A group of diseases marked by autosomal recessive inheritance and accumulation of sphingomyelin in cells of the RETICULOENDOTHELIAL SYSTEM. They are divided into 5 subtypes: A-E. Type A (classic infantile form) is caused by a deficiency of SPHINGOMYELIN PHOSPHODIESTERASE and presents at age 6-12 months with progressive hepatosplenomegaly and neurologic deterioration. Type B (non-neuronopathic form) presents in childhood with hepatosplenomegaly and pulmonary infiltrates. Type C (chronic neuronopathic form) is caused by defective intracellular cholesterol transport and is divided into severe infantile, late infantile, juvenile, and neonatal hepatitis forms. Type D (Nova Scotian Variant) is phenotypically similar to type C. Type E is an adult non-neuronopathic form. (From Menkes, Textbook of Child Neurology, 5th ed, pp101-4)
    Source - Diseases Database

Niemann-Pick disease, type A: Introduction

Types of Niemann-Pick disease, type A:

Broader types of Niemann-Pick disease, type A:

How many people get Niemann-Pick disease, type A?

Prevalance of Niemann-Pick disease, type A: approximately 1 per 40,000 people of Ashkenazi Jewish descent have Niemann-Pick disease type A, Genetics Home Reference website
Prevalance Rate of Niemann-Pick disease, type A: approx 1 in 40,000 or 0.00% or 6,800 people in USA [about data]

Who gets Niemann-Pick disease, type A?

Racial predominance for Niemann-Pick disease, type A: Ashkenazi Jewish descent

How serious is Niemann-Pick disease, type A?

Prognosis of Niemann-Pick disease, type A: survival rare after early childhood
Complications of Niemann-Pick disease, type A: see complications of Niemann-Pick disease, type A

What causes Niemann-Pick disease, type A?

Causes of Niemann-Pick disease, type A: see causes of Niemann-Pick disease, type A

What are the symptoms of Niemann-Pick disease, type A?

Symptoms of Niemann-Pick disease, type A: see symptoms of Niemann-Pick disease, type A

Complications of Niemann-Pick disease, type A: see complications of Niemann-Pick disease, type A

Onset of Niemann-Pick disease, type A: infancy

Can anyone else get Niemann-Pick disease, type A?

More information: see contagiousness of Niemann-Pick disease, type A
Inheritance: see inheritance of Niemann-Pick disease, type A

Niemann-Pick disease, type A: Testing

Diagnostic testing: see tests for Niemann-Pick disease, type A.

Misdiagnosis: see misdiagnosis and Niemann-Pick disease, type A.

How is it treated?

Doctors and Medical Specialists for Niemann-Pick disease, type A: Medical Geneticist ; see also doctors and medical specialists for Niemann-Pick disease, type A.
Treatments for Niemann-Pick disease, type A: see treatments for Niemann-Pick disease, type A
Research for Niemann-Pick disease, type A: see research for Niemann-Pick disease, type A

Name and Aliases of Niemann-Pick disease, type A

Main name of condition: Niemann-Pick disease, type A

Other names or spellings for Niemann-Pick disease, type A:

NPD type A

Sphingomyelin lipidosis, Sphingomyelinase deficiency Source - Diseases Database

Niemann-Pick disease, type A: Related Conditions

Research the causes of these diseases that are similar to, or related to, Niemann-Pick disease, type A:

 

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