title: [Prenatal diagnosis of Gaucher disease].
abstract: Gaucher disease (GD, OMIM #230800, 230900, 231000) is a lysosomal surcharge disorder caused by a deficiency in glucocerebrosidase, a lysosomal enzyme also referred to as acid beta-glucosidase or, in rare cases, by a deficiency in the activator protein saposin C. Partial deficiency of acid beta-glucosidase is associated with the presence of glucosylceramide, also known as glucocerebroside (Gb1), deposits in the reticuloendothelial cells of the liver, spleen and bone marrow, in non-neuronopathic type 1, GD. Profound deficiency of acid beta-glucosidase caused by disabling mutations is additionally associated with neurological manifestations in the less common type 2 and type 3 Gaucher diseases. Type 2 GD culminates in early death as a result of devastating neurological disease. Congenital ichtyosis with a collodion baby phenotype is also part of the spectrum of clinical presentations of type 2 GD. Recombinant glucocerebrosidase (imiglucerase) is an effective mean of treating type 1 GD and should be initiated early on in life. Although imiglucerase has recently been approved for the treatment of type 3 GD, enzyme replacement therapy cannot reverse the neurological manifestations in type 2 or type 3 GD. Following genetic counseling and informed consent, direct enzymatic assay of acid beta-glucosidase and molecular testing of the GBA mutations on chorionic villi samples (CVS) can be offered to families in which type 2 or type 3 GD has been diagnosed. Improvement in substrate deprivation therapy or gene therapy may provide a cure for patients with these disorders in the future.
authors.affiliation: Centre de référence de la maladie de Fabry et des maladies héréditaires du tissu conjonctif, Assistance Publique, Hôpitaux de Paris, Hôpital Raymond Poincaré, 104, Boulevard Raymond Poincaré, 92380 Garches, France. dominique.germain@rpc.aphp.fr
authors.forename: D P
authors.initials: DP
authors.lastname: Germain
authors.forename: K
authors.initials: K
authors.lastname: Benistan
mesh_terms: D000293:Adolescent; D000649:Amniocentesis; D015415:Biomarkers; D015193:Chorionic Villi Sampling; D005260:Female; D005544:Forecasting; D005776:Gaucher Disease / Q000145:classification / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality / Q000628:therapy; D005817:Genetic Counseling; D015316:Genetic Therapy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D015415:Biomarkers