Ceramidase deficiency in Farber's disease (lipogranulomatosis).
Ceramidase activity could not be demonstrated in the kidney and cerebellum from a deceased patient with Farber's disease, whereas the activities of six control acid hydrolase enzymes appeared normal. This enzyme defect presumably accounts for the accumulation that has been described in two patients and may represent the biochemical basis of this disorder.
D000135:Acid Phosphatase / Q000378:metabolism; D000328:Adult; D002247:Carbon Isotopes; D002518:Ceramides; D002531:Cerebellum / Q000201:enzymology; D002554:Cerebrosides; D002648:Child; D002675:Child, Preschool; D000013:Congenital Abnormalities / Q000201:enzymology; D005260:Female; D005690:Galactose; D005696:Galactosidases / Q000378:metabolism; D005947:Glucose; D006026:Glycoside Hydrolases / Q000378:metabolism; D006330:Heart Defects, Congenital / Q000201:enzymology; D006596:Hexosaminidases / Q000378:metabolism; D006801:Humans; D006867:Hydrolases / Q000378:metabolism*; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000201:enzymology; D007668:Kidney / Q000201:enzymology*; D008064:Lipidoses / Q000201:enzymology*; D008105:Liver Cirrhosis, Biliary / Q000201:enzymology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology; D009439:Neuraminidase / Q000378:metabolism; D010859:Pigmentation Disorders / Q000201:enzymology; D012127:Respiratory Distress Syndrome, Newborn / Q000201:enzymology
D002247:Carbon Isotopes; D002518:Ceramides; D002554:Cerebrosides; D006867:Hydrolases; D000135:Acid Phosphatase; D005696:Galactosidases; D006026:Glycoside Hydrolases; D006596:Hexosaminidases; D009439:Neuraminidase; D005947:Glucose; D005690:Galactose