Farber’s disease

Farber s disease Ceramidase Acyl-i-Sphingosine Ceramide Hoarseness, dermatitis, skeletal deformation, mental retardation fatal in early life. 

Farber s disease is a rare disorder caused by deficiency of acid ceramidase and is associated with the accumulation of ceramide in subcutaneous tissues, joints, kidney, lung and neurons. Gangliosides also accumulate. 

Farber s disease (lipogranulomatosis) Acid ceramidase Ceramide... 

Sugita, M., Dulaney, J.T., Moser, H.W., 1972, Ceramidase deficiency in Farber s disease (hpogranulomatosis). Science 178 1100-1102. 

Mitsuo K, Kobayashi T, Shinnoh N, Goto I (1988) A high-performance liquid chromatographic assay for acid ceramidase activity in cultured fibroblasts from patients with Farber s disease and from controls. Clin Chim Acta 173 281-288... 

A quantitative HPLC method for the analysis of sphingolipids as their perbenzoyl derivatives was first developed for ceramides (5). Ceramides can be conveniently derivatized with benzoic anhydride in pyridine (3 hrs at 110°C) and the products formed have been utilized for the quantitative analysis of NFA and HFA ceramides in normal and Farber s disease tissue. Iwamori and Moser also utilized this procedure for the analysis of ceramides in Farber s disease urine (6). More recently Iwamori and Moser (7) established that the ceramide derivatives formed by reaction with benzoyl chloride or benzoic anhydride are analogous to those formed with cerebrosides. They also characterized the behavior... 

A nonlysosomal ceramidase in some tissues functions optimally at neutral or alkaline pH and participates in the synthesis and breakdown of ceramide. Deficiency of lysosomal (acid) ceramidase in Farber s disease (lipogranu-lomatosis) causes accumulation of ceramide. The disease is inherited as an autosomal recessive trait and is characterized by granulomatous lesions in the skin, joints, and larynx and moderate nervous system dysfunction it may also involve heart, lungs, and lymph nodes. It is usually fatal during the first few years of life. 

Normal urinary glycosaminoglycan patterns have been reported for cases of nail-patella syndrome and Farber s disease (W7) and for patients with cystic fibrosis (C25, K38 also see above). 

W7. Wessler, E., Determination of acidic glycosaminoglycans (mucopolysaccharides) in urine by an ion exchange method. Application to coUagenoses , gargoylism, the nail-patella syndrome and Farber s disease. Clin. Chim. Acta 16,235-243 (1967). 

Other rare lipid-storage diseases include Wolman s disease (triacylglycerol and cholesterol accumulation), hepatic cholesterol ester storage disease, ceroid storage disease, histiocytosis X, lipid proteinosis, lipid dermatoarthritis and Farber s disease (see Table 12.5 involves storage of acid mucopoly-... 

Fabry s disease, 544 Farber s disease, 544, 548 Farm animals, dietary lipids, 557 Fat-soluble vitamins, 527, 529 Fat splitting, 477 Fats, C-NMR, 412 Fatty acids... 

In the last step of sphingolipid degradation, ceramide is split into sphingosin and a long-chain fatty acid by the enzyme ceramidase. The genetic defect of this enzyme leads to Farber s disease, a storage disorder with onset in early childhood. In most cases, death occurs in the early years of life, but later-onset types with variable involvement of the central nervous system have also been observed. 

Fig. 22.5. loint swelling and hoarseness are the leading symptoms in Farber s disease... 

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