title: Niemann-Pick disease type B: prenatal diagnosis and enzymatic and chemical studies on fetal brain and liver.
abstract: Patients with Niemann-Pick disease type A have a severe neurovisceral disease caused by a deficiency of lysosomal sphingomyelinase activity in all tissues examined. The patients with the type B form have signs and symptoms related to storage of sphingomyelin in the spleen, liver, and lungs, while neurologically they remain normal. They also have a severe deficiency of lysosomal sphingomyelinase activity in all tissues previously examined. Here the brain and liver of a fetus with Niemann-Pick disease type B are examined for enzymatic anc chemical changes. Despite careful analysis, no measurable lysosomal sphingomyelinase could be measured in either organ. Lipid changes were comparable to those observed in fetuses aborted with Niemann-Pick disease type A. The affected child in this family is now age 3 and remains neurologically normal but continues to show organ enlargement and lung infiltration of lipids. It appears that the lack of neurological involvement in type B patients cannot be due to an obvious presence of significant lysosomal sphingomyelinase activity in brain.
mesh_terms: D000328:Adult; D001921:Brain / Q000201:enzymology*; D005260:Female; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000201:enzymology*; D008297:Male; D009542:Niemann-Pick Diseases / Q000145:classification / Q000175:diagnosis* / Q000201:enzymology; D010727:Phosphoric Diester Hydrolases / Q000172:deficiency*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency*; D013109:Sphingomyelins / Q000032:analysis; D013154:Spleen / Q000201:enzymology
chemical_list: D013109:Sphingomyelins; D010727:Phosphoric Diester Hydrolases; D013108:Sphingomyelin Phosphodiesterase