Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts.
The enzyme defect in Farber disease, a deficiency of acid ceramidase, has been demonstrated in cultured skin fibroblasts, which provides a means of confirming the diagnosis during life. The assay can also be performed using cultured amniotic fluid cells and is a potential tool for detection of carriers of the disease.
D000581:Amidohydrolases / Q000172:deficiency*; D002518:Ceramides / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006099:Granuloma / Q000175:diagnosis* / Q000201:enzymology; D006801:Humans; D008064:Lipidoses / Q000175:diagnosis*; D011247:Pregnancy; D012867:Skin / Q000473:pathology
D002518:Ceramides; D000581:Amidohydrolases