Ontology highlight
ABSTRACT:
SUBMITTER: Goudie C
PROVIDER: S-EPMC6498832 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Goudie Catherine C Alayoubi Abdulfatah M AM Tibout Pauline P Duval Michel M Maranda Bruno B Mitchell David D Mitchell John J JJ
JIMD reports 20190314 1
Farber disease (FD) is an inherited autosomal recessive disorder of lipid metabolism. The hallmark of the disease is systemic accumulation of ceramide due to lysosomal acid ceramidase deficiency. The involvement of the central nervous system is critical in this disorder leading to rapid deterioration and death within a few years after birth. Efforts to treat patients by hematopoietic stem cell transplant (HSCT) have resulted in favorable results in the absence of neurological manifestations. We ...[more]