Definition:
Niemann-Pick disease Type C is classified as an autosomal recessive disorder. It mainly affects the metabolism of fats and lipids in the body. The process of fat breakdown in the body and the manner of utilizing it for daily activities is greatly affected.
This disorder which impairs fat metabolism in the body causes excessive and abnormally high amounts of lipids to accumulate in the liver, bone marrow, lungs, spleen and even in the brain.
Niemann-Pick Disease Type C usually occurs during the childhood stages. However, it may also manifest during infancy and adulthood.
Incidence for this type of disease had been estimated to be 1 in every 150,000 individuals. Niemann-Pick Disease Type C is more common among individuals of French-Acadian descent living in Nova Scotia.
Diagnosis:
Diagnosis depends on several laboratory tests which include series of blood works. Other diagnostic procedures may be requested by the physician to assess severity of liver and spleen condition.
Symptoms and Signs:
Symptoms includes, liver diseases which are of serious types, severe breathing problems and difficulties, dystonia or abnormal muscle tone, seizures, delayed development, lack of vertical eye movements, uncoordinated movements and feeding problems.
Causes:
Niemann-Pick Disease Type C is inherited. It is classified as an autosomal recessive disorder.
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