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Article

Novel biochemical abnormalities and genotype in Farber disease.

Indian pediatrics - 1 Apr 2012

Muranjan Mamta, Agarwal Shruti, Lahiri Keya, Bashyam Murali

Abstract excerpt

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.

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PMID: 22565078

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