About The Medical Condition Sphingomyelinase Deficiency Disease
Find the definition of the medical term Sphingomyelinase Deficiency Disease. Sphingomyelinase Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Sphingomyelinase Deficiency Disease
| Sphingomyelinase Deficiency Disease Medical Condition |
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What's The Definition Of The Medical Condition Sphingomyelinase Deficiency Disease?
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)
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