Farber's disease (lysosomal acid ceramidase deficiency).
نویسندگان
چکیده
The patient presented with progressive joint deformity, a hoarse voice, subsequent cachexia, and myoclonic seizures. She was first seen aged 22 months and died aged 6 years. A diagnosis of Farber's disease was made by demonstrating a deficiency of acid ceramidase both in leucocytes and fibroblasts.
منابع مشابه
Metabolism of ceramide-containing endocytotic vesicles in human diploid fibroblasts.
Two isoenzymes of ceramidase, including lysosomal acid ceramidase and nonlysosomal alkaline ceramidase, catalyze the degradation of ceramide in cultured human skin fibroblasts. A genetically determined disorder of sphingolipid metabolism (Farber's-disease) is characterized by the deficiency of acid ceramidase and by the pathological accumulation of ceramide. In this report, we take advantage of...
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The lysosomal degradation of ceramide is catalyzed by acid ceramidase and requires sphingolipid activator proteins (SAP) as cofactors in vivo. The aim of this study was to investigate how ceramide is hydrolyzed by acid ceramidase at the water-membrane interface in the presence of sphingolipid activator proteins in a liposomal assay system. The degradation of membrane-bound ceramide was signific...
متن کاملInterfacial regulation of acid ceramidase activity. Stimulation of ceramide degradation by lysosomal lipids and sphingolipid activator proteins.
The lysosomal degradation of ceramide is catalyzed by acid ceramidase and requires sphingolipid activator proteins (SAP) as cofactors in vivo. The aim of this study was to investigate how ceramide is hydrolyzed by acid ceramidase at the water-membrane interface in the presence of sphingolipid activator proteins in a liposomal assay system. The degradation of membrane-bound ceramide was signific...
متن کاملSystemic ceramide accumulation leads to severe and varied pathological consequences
Farber disease (FD) is a severe inherited disorder of lipid metabolism characterized by deficient lysosomal acid ceramidase (ACDase) activity, resulting in ceramide accumulation. Ceramide and metabolites have roles in cell apoptosis and proliferation. We introduced a single-nucleotide mutation identified in human FD patients into the murine Asah1 gene to generate the first model of systemic ACD...
متن کاملIntroducing Two Cases of Farber Disease
Lipogranulomatosis or Farber's disease in a rare autosomal recessive disorder characterized by swollen, tender joints, periarticular and subcutaneous nodules, horsncss and progressive aphonia. Hepatosplcnomcgaly and C.N.S. involvements arc also reported in certain patients. The disorder is caused by a deficiency of acid ceramidase which may be best diagnosed by missing ceramidasc activity at a...
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عنوان ژورنال:
- Annals of the rheumatic diseases
دوره 46 7 شماره
صفحات -
تاریخ انتشار 1987