Farber's disease (lysosomal acid ceramidase deficiency).
The patient presented with progressive joint deformity, a hoarse voice, subsequent cachexia, and myoclonic seizures. She was first seen aged 22 months and died aged 6 years. A diagnosis of Farber's disease was made by demonstrating a deficiency of acid ceramidase both in leucocytes and fibroblasts.
Jameson
R A
RA
Booth Hall Children's Hospital, Manchester.
Holt
P J
PJ
Keen
J H
JH
D055573:Acid Ceramidase; D000581:Amidohydrolases / Q000172:deficiency*; D001168:Arthritis / Q000151:congenital; D055572:Ceramidases; D005260:Female; D006801:Humans; D007223:Infant; D008064:Lipidoses / Q000151:congenital*; D008247:Lysosomes / Q000201:enzymology; D013577:Syndrome
D000581:Amidohydrolases; C526693:ASAH1 protein, human; D055573:Acid Ceramidase; D055572:Ceramidases