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Niemann-Pick disease, type A

Niemann-Pick disease, type A: Introduction

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. More detailed information about the symptoms, causes, and treatments of Niemann-Pick disease, type A is available below.

Symptoms of Niemann-Pick disease, type A

Home Diagnostic Testing

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Wrongly Diagnosed with Niemann-Pick disease, type A?

Niemann-Pick disease, type A: Related Patient Stories

Niemann-Pick disease, type A: Deaths

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Niemann-Pick disease, type A: Complications

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Causes of Niemann-Pick disease, type A

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Disease Topics Related To Niemann-Pick disease, type A

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

Niemann-Pick disease, type A: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Niemann-Pick disease, type A

Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who had been institutionalized and treated for mental illness because he suffered from sudden inability to speak. This was...read more »

Dementia may be a drug interaction: A common scenario in aged care is for a patient to show mental decline to dementia. Whereas this can, of course, occur due to various medical...read more »

Mild traumatic brain injury often remains undiagnosed: Although the symptoms of severe brain injury are hard to miss, it is less clear for milder injuries, or even those causing a mild concussion...read more »

MTBI misdiagnosed as balance problem: When a person has symptoms such as vertigo or dizziness, a diagnosis of brain injury may go overlooked. This is particularly true of mild traumatic brain injury (MTBI), for which the symptoms...read more »

Brain pressure condition often misdiagnosed as dementia: A condition that results from an excessive pressure of CSF within the brain is often misdiagnosed. It may be...read more »

Post-concussive brain injury often misdiagnosed: A study found that soldiers who had suffered a concussive injury in battle often were misdiagnosed on their return. A variety of symptoms can occur in post...read more »

Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the typical migraine sufferers, but migraines can also occur in children....read more »

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple...read more »

Niemann-Pick disease, type A: Research Doctors & Specialists

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Niemann-Pick disease, type A: Rare Types

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Evidence Based Medicine Research for Niemann-Pick disease, type A

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Niemann-Pick disease, type A: Animations

Prognosis for Niemann-Pick disease, type A

Prognosis for Niemann-Pick disease, type A: survival rare after early childhood

Research about Niemann-Pick disease, type A

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Statistics for Niemann-Pick disease, type A

Niemann-Pick disease, type A: Broader Related Topics

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Definitions of 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)

 

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