NEMAniveaus

NEMAniveaus refers to the levels of Niemann-Pick disease, a group of rare genetic lysosomal storage disorders. These disorders affect the body's ability to process cholesterol and other fats. The different types of Niemann-Pick disease, known as types A, B, and C, are categorized based on the underlying genetic mutation and the resulting enzyme deficiency or transport defect.

Type A is the most severe form, typically presenting in infancy. It is caused by a deficiency of the enzyme acid sphingomyelinase. Individuals with Type A experience rapid neurological deterioration and have a very short life expectancy. Symptoms include enlarged liver and spleen, feeding difficulties, and progressive loss of motor skills.

Type B also results from acid sphingomyelinase deficiency but is less severe than Type A. Onset is usually in childhood or adolescence, and neurological involvement is typically minimal or absent. The primary manifestations are enlarged liver and spleen, and recurrent respiratory infections due to lung involvement. Life expectancy is generally longer than in Type A.

Type C is distinct from Types A and B as it is caused by mutations in either the NPC1 or NPC2 gene, which are involved in intracellular cholesterol transport. This leads to the accumulation of cholesterol and other lipids within cells. Type C can present at any age, from infancy to adulthood, with a wide spectrum of symptoms. Neurological and psychiatric symptoms are common and can include ataxia, dystonia, cognitive decline, and psychosis. Liver and spleen enlargement can also occur. The progression of Type C varies significantly among affected individuals. Diagnosis for all types involves genetic testing and biochemical assays. Treatment focuses on managing symptoms and supportive care, as there is no cure.