Heritable catabolic and anabolic disorders of lipid metabolism.
The principal manifestations and metabolic defects in ten heritable disorders of lipid metabolism are discussed. Facile procedures have been developed for the diagnosis of patients with these conditions, the identification of heterozygous carriers, and the prenatal detection of any of these diseases. Enzyme replacement appears promising for patients with Fabry's disease and Gaucher's disease who do not have central nervous system damage. The clinical and biochemical abnormalities that occur in patients with a novel inherited disorder of ganglioside anabolism are described.
D000328:Adult; D002553:Cerebroside-Sulfatase / Q000172:deficiency; D000795:Fabry Disease / Q000175:diagnosis; D005260:Female; D005698:Galactosylceramidase / Q000172:deficiency; D005733:Gangliosidoses / Q000175:diagnosis; D005776:Gaucher Disease / Q000175:diagnosis*; D005962:Glucosylceramidase / Q000172:deficiency; D006596:Hexosaminidases / Q000172:deficiency; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis; D008052:Lipid Metabolism, Inborn Errors; D008064:Lipidoses / Q000175:diagnosis; D008297:Male; D008875:Middle Aged; D009542:Niemann-Pick Diseases / Q000175:diagnosis; D011296:Prenatal Diagnosis; D013106:Sphingolipidoses / Q000235:genetics / Q000628:therapy; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency; D005644:alpha-L-Fucosidase / Q000172:deficiency
D013108:Sphingomyelin Phosphodiesterase; D002553:Cerebroside-Sulfatase; D006596:Hexosaminidases; D005962:Glucosylceramidase; D005698:Galactosylceramidase; D005644:alpha-L-Fucosidase