6533b86efe1ef96bd12cb349

RESEARCH PRODUCT

Acid Ceramidase Deficiency

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description

Abstract A deficiency of the lysosomal enzyme ceramidase leads to accumulation of the sphingolipid ceramide in several organs such as skin, liver, brain and other tissues, resulting in a broad spectrum of clinical manifestations. The most common form, called Farber lipogranulomatosis, is characterized by subcutaneous skin nodules and a progressive hoarseness, in many cases also the central nervous system is affected. A lethal hydrops fetalis represents the most severe form. A ceramidase deficiency was also found in a few patients in whom neurological symptoms such as spinal muscular atrophy and myoclonus epilepsy dominated the clinical picture. In the ceramidase gene, which has been mapped to chromosome 8 and contains 14 exons, more than 20 different mutations have been identified. Bone marrow transplantation is the only available treatment. Gene therapy may become available in the future.