title: Novel biochemical abnormalities and genotype in Farber disease.
abstract: Farber disease caused by acid ceramidase deficiency is characterised by a triad of painful and swollen joints, subcutaneous nodules, and laryngeal involvement. A one year old female with overlapping features of the classical and type 5 variants is reported. Sialuria and elevated plasma chitotriosidase were unusual findings. A novel mutation of the ASAH 1 gene was detected from DNA extracted from the umbilical stump.
authors.affiliation: Genetic Clinic, Department of Pediatrics, Seth GS Medical College and KEM Hospital, Parel, Mumbai 400 012, India. muranjanmamta@rediffmail.com
authors.forename: Mamta
authors.initials: M
authors.lastname: Muranjan
authors.forename: Shruti
authors.initials: S
authors.lastname: Agarwal
authors.forename: Keya
authors.initials: K
authors.lastname: Lahiri
authors.forename: Murali
authors.initials: M
authors.lastname: Bashyam
mesh_terms: D055573:Acid Ceramidase / Q000235:genetics; D055577:Farber Lipogranulomatosis / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant
chemical_list: C526693:ASAH1 protein, human; D055573:Acid Ceramidase