Farber lipogranulomatosis type 1 - Late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation

European Journal of Paediatric Neurology

Volumn 15, Issue 2, 2011, Pages 171-173

  Cvitanovic Sojat, L ^a   Juraski, R Gjergja ^a   Sabourdy, F ^b   Fensom, A H ^c   Fumic, K ^d   Paschke, E ^e   Levade, T ^b  

^a SESTRE MILOSRDNICE UNIVERSITY HOSPITAL   (Croatia)

^b CHU PURPAN   (France)

^c GUY S HOSPITAL   (United Kingdom)

^d KBC Zagreb   (Croatia)

^e UNIVERSITY OF GRAZ   (Austria)

Author keywords

Acid ceramidase; Cherry red spot; Farber lipogranulomatosis type 1; Hoarseness; Joint swelling; Subcutaneous nodules

Indexed keywords

ACID CERAMIDASE; ANTICONVULSIVE AGENT; CERAMIDE; CORTICOSTEROID; MEMBRANE PROTEIN; PROTEIN ASAH1; UNCLASSIFIED DRUG; VITAMIN;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE DURATION; FARBER DISEASE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; JUVENILE RHEUMATOID ARTHRITIS; MALE; MORTALITY; MYOCLONUS; POINT MUTATION; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SEIZURE;

ACID CERAMIDASE; AGE OF ONSET; CHILD, PRESCHOOL; CROATIA; FARBER LIPOGRANULOMATOSIS; FATAL OUTCOME; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION;

EID: 79952532378     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2010.06.002     Document Type: Article

References (5)

1. J. Bär, T. Linke, K. Ferlinz, U. Neumann, E.H. Schuchman, and K. Sandhoff Molecular analysis of acid ceramidase deficiency in patients with Farber disease Hum Mutat 17 3 2001 Mar 199 209 (Pubitemid 32187051)
2. A.R. Devi, M. Gopikrishna, R. Ratheesh, G. Savithri, G. Swarnalata, and M. Bashyam Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family J Hum Genet 51 9 2006 811 814 (Pubitemid 44386826)
3. T. Levade, K. Sandhoff, H. Schulze, and J.A. Medin Acid ceramidase deficiency: Farber lipogranulomatosis D. Valle, Scriver's OMMBID (Online Metabolic and Molecular Bases of Inherited Disease) 2009 McGraw-Hill New York http://www.ommbid.com
4. T. Levade, M.C. Tempesta, and H.W. Moser Sulfatide and sphingomyelin loading of living cells as tools for the study of ceramide turnover by lysosomal ceramidase - implications for the diagnosis of Farber disease Biochem Mol Med 54 2 1995 117 125
5. T. Levade, H.W. Moser, and A.H. Fensom Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells J Neurol Sci 134 1-2 1995 108 114 (Pubitemid 3008262)