{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13(2)"],"submitter":["Kleynerman A"],"pubmed_abstract":["Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) are ultra-rare, autosomal-recessive, acid ceramidase (ACDase) deficiency disorders caused by <i>ASAH1</i> gene mutations. Currently, 73 different mutations in the <i>ASAH1</i> gene have been described in humans. These mutations lead to reduced ACDase activity and ceramide (Cer) accumulation in many tissues. Presenting as divergent clinical phenotypes, the symptoms of FD vary depending on central nervous system (CNS) involvement and severity. Classic signs of FD include, but are not limited to, a hoarse voice, distended joints, and lipogranulomas found subcutaneously and in other tissues. Patients with SMA-PME lack the most prominent clinical signs seen in FD. Instead, they demonstrate muscle weakn"],"journal":["Biomolecules"],"pagination":["274"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9953133"],"repository":["biostudies-literature"],"pubmed_title":["Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions."],"pmcid":["PMC9953133"],"pubmed_authors":["Kleynerman A","McKillop WM","Faber ML","Medin JA","Rybova J","Levade T"],"additional_accession":[]},"is_claimable":false,"name":"Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions.","description":"Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) are ultra-rare, autosomal-recessive, acid ceramidase (ACDase) deficiency disorders caused by <i>ASAH1</i> gene mutations. Currently, 73 different mutations in the <i>ASAH1</i> gene have been described in humans. These mutations lead to reduced ACDase activity and ceramide (Cer) accumulation in many tissues. Presenting as divergent clinical phenotypes, the symptoms of FD vary depending on central nervous system (CNS) involvement and severity. Classic signs of FD include, but are not limited to, a hoarse voice, distended joints, and lipogranulomas found subcutaneously and in other tissues. Patients with SMA-PME lack the most prominent clinical signs seen in FD. Instead, they demonstrate muscle weakn","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Feb","modification":"2025-04-05T07:24:28.43Z","creation":"2025-04-05T07:24:28.43Z"},"accession":"S-EPMC9953133","cross_references":{"pubmed":["36830643"],"doi":["10.3390/biom13020274"]}}