title: The clinical management of Type 2 Gaucher disease.
abstract: Gaucher disease, the inherited deficiency of the enzyme glucocerebrosidase, is the most common of the lysosomal storage disorders. Type 2 Gaucher disease, the most severe and progressive form, manifests either prenatally or in the first months of life, followed by death within the first years of life. The rarity of the many lysosomal storage disorders makes their diagnosis a challenge, especially in the newborn period when the focus is often on more prevalent illnesses. Thus, a heightened awareness of the presentation of these rare diseases is necessary to ensure their timely consideration. This review, designed to serve as a guide to physicians treating newborns and infants with Gaucher disease, discusses the presenting manifestations of Type 2 Gaucher disease, the diagnostic work-up, associated genotypes and suggestions for management. We also address the ethical concerns that may arise with this progressive and lethal disorder, since currently available treatments may prolong life, but do not impact the neurological manifestations of the disease.
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Karin
authors.initials: K
authors.lastname: Weiss
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Ashley
authors.initials: A
authors.lastname: Gonzalez
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Grisel
authors.initials: G
authors.lastname: Lopez
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Leah
authors.initials: L
authors.lastname: Pedoeim
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Catherine
authors.initials: C
authors.lastname: Groden
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Ellen
authors.initials: E
authors.lastname: Sidransky
mesh_terms: D019468:Disease Management; D005776:Gaucher Disease / Q000175:diagnosis* / Q000628:therapy*; D005838:Genotype; D005962:Glucosylceramidase / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn
chemical_list: D005962:Glucosylceramidase
keywords: Acute neuronopathic; Congenital ichthyosis; Gaucher disease; Hydrops fetalis; Lysosomal storage disorder; Palliative care