Acid ceramidase deficiency: Farber disease and SMA-PME

Abstract

[...]gene therapy strategies for the treatment of ACDase deficiency are actively being pursued. M months, Y years, number in brackets indicates the total number of cases included to calculate the average age and standard deviation Table 2 Main Clinical Features Present in Cases Related to ACDase Deficiency Variants Cases with clinical details Nodules Joint contractures Hoarse voice Hepatosplenomegaly Neurological and behavioral Respiratory Motor neuron/Muscle weakness Ocular Bone Myoclonus & seizures Classic and Severe FD 79 95% 96% 90% 38% 62% 38% 32% 22% 18% 19% Mild & Intermediate FD 36 94% 97% 72% 3% 22% 25% 25% 8% 31% 14% SMA-PME 20 0% 0% 0% 0% 60% 45% 100% 0% 0% 100% SMA-PME (like) 19 0% 0% 0% 0% 32% 26% 95% 0% 0% 100% Percentage representations of common clinical features in the literature for FD and the SMA-PME variant of ACDase deficiency Traditional classifications of Farber disease Farber disease (FD; OMIM #228000), also known as Farber’s lipogranulomatosis, is an ultra-rare lysosomal storage disorder (LSD). [...]Type 7 FD is termed “Prosaposin Deficiency.” Increasingly, many of the more recently reported cases simply identify FD as either the classic childhood or the mild and attenuated form [16–18]. Since some of these subtypes are rare and represent separate conditions, an updated classification should be considered to incorporate the existing and emerging phenotypes of ACDase deficiency.