Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0154251 (lipid disorder)
 795 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Farber's lipogranulomatosis is a disorder of lipid metabolism due to deficiency of lysosomal acid ceramidase. Since Farber described the first case in 1947, at least 50 cases have been reported. Clinical manifestations include progressive arthropathies with periarticular swelling, hoarse voice, multiple subcutaneous nodules and growth and developmental retardation. The histological findings indicate granuloma formation with infiltrated lipid-laden macrophages and fibroblasts. Curvilinear tubular structures, so-called "Farber bodies", are observed on electron microscopy. The specific diagnosis can be made by demonstration of a deficiency of acid ceramidase, ceramide accumulation in tissue or characteristic morphological features on biopsy or postmortem specimens. Bone marrow transplantation may be effective during the early stage of this disease.
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PMID:[Farber's lipogranulomatosis]. 857 50

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 ACDase deficiency. Homozygous Asah1(P361R/P361R) animals showed ACDase defects, accumulated ceramide, demonstrated FD manifestations and died within 7-13 weeks. Mechanistically, MCP-1 levels were increased and tissues were replete with lipid-laden macrophages. Treatment of neonates with a single injection of human ACDase-encoding lentivector diminished the severity of the disease as highlighted by enhanced growth, decreased ceramide, lessened cellular infiltrations and increased lifespans. This model of ACDase deficiency offers insights into the pathophysiology of FD and the roles of ACDase, ceramide and related sphingolipids in cell signaling and growth, as well as facilitates the development of therapy.
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PMID:Systemic ceramide accumulation leads to severe and varied pathological consequences. 2366 71

Farber disease (FD) is an inherited autosomal recessive disorder of lipid metabolism. The hallmark of the disease is systemic accumulation of ceramide due to lysosomal acid ceramidase deficiency. The involvement of the central nervous system is critical in this disorder leading to rapid deterioration and death within a few years after birth. Efforts to treat patients by hematopoietic stem cell transplant (HSCT) have resulted in favorable results in the absence of neurological manifestations. We report the outcomes of HSCT in two patients with FD who received early HSCT and had neurological deterioration posttransplant. We also present a new understanding of the limitations of HSCT in FD management based on our observations of the clinical course of the two patients after therapy.
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PMID:Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature review. 3124 Jan 54