Den klassiska barnformen av Niemann-Picks sjukdom, vilken orsakas av en mutation av sfingomyelinfosfodiesteras. Den kännetecknas av ansamling av sfingomyeliner i de mononukleära fagocyterna och andra celler i kroppen, vilket leder till celldöd. Till de kliniska yttringarna hör gulsot, förstorad lever och mjälte, och svår hjärnskada.
The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.
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Niemann Pick Disease, Type A — Classical Niemann-Pick Disease — Classical Niemann Pick Disease — Niemann-Pick Disease, Classical — Niemann-Pick Disease, Acute Neuronopathic Form — Niemann Pick Disease, Acute Neuronopathic Form — Niemann-Pick Disease, Acute Neurovisceral Form — Niemann Pick Disease, Acute Neurovisceral Form — Niemann-Pick Disease, Neuronopathic Type — Niemann Pick Disease, Neuronopathic Type — Sphingomyelinase Deficiency Disease — Sphingomyelinase Deficiency Diseases — Sphingomyelin Cholesterol Lipidosis — Cholesterol Lipidoses, Sphingomyelin — Cholesterol Lipidosis, Sphingomyelin — Lipidoses, Sphingomyelin Cholesterol — Lipidosis, Sphingomyelin Cholesterol — Sphingomyelin Cholesterol Lipidoses — Type A Niemann-Pick Disease — Type A Niemann Pick Disease — Niemann-Pick's Disease Type A — Niemann Pick's Disease Type A — Sphingomyelin Lipidosis — Lipidoses, Sphingomyelin — Lipidosis, Sphingomyelin — Sphingomyelin Lipidoses — Sphingomyelinase Deficiency — Deficiencies, Sphingomyelinase — Deficiency, Sphingomyelinase — Sphingomyelinase Deficiencies — Neuronal Cholesterol Lipidosis — Cholesterol Lipidoses, Neuronal — Cholesterol Lipidosis, Neuronal — Lipidoses, Neuronal Cholesterol — Lipidosis, Neuronal Cholesterol — Neuronal Cholesterol Lipidoses — Ophthalmoplegia, Supraoptic Vertical — Ophthalmoplegias, Supraoptic Vertical — Supraoptic Vertical Ophthalmoplegia — Supraoptic Vertical Ophthalmoplegias — Vertical Ophthalmoplegia, Supraoptic — Vertical Ophthalmoplegias, Supraoptic