Prenatal diagnosis of Niemann-Pick diseases types A, B and C.
Prenatal diagnosis of Niemann-Pick disease types A and B is routinely accomplished by sphingomyelinase assay. For Niemann-Pick type C disease, demonstration of an abnormal intracellular cholesterol trafficking is a complex procedure, and mutational analysis (NPC1 or NPC2/HE1 gene), whenever feasible, represents a major advance.
INSERM U189, Faculté de Médecine Lyon-Sud, 69921 Oullins Cedex, France. vanier@lyon151.inserm.fr
Marie T
MT
Vanier
D000328:Adult; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism; D002478:Cells, Cultured; D004252:DNA Mutational Analysis; D005260:Female; D006023:Glycoproteins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins / Q000235:genetics / Q000378:metabolism; D000077296:Niemann-Pick C1 Protein; D009542:Niemann-Pick Diseases / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency / Q000378:metabolism; D033921:Vesicular Transport Proteins
D002352:Carrier Proteins; D006023:Glycoproteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; C104585:NPC2 protein, human; D000077296:Niemann-Pick C1 Protein; D033921:Vesicular Transport Proteins; D013108:Sphingomyelin Phosphodiesterase