title: Free sialic acid storage disease without sialuria.
abstract: We performed high-resolution in vitro proton nuclear magnetic resonance spectroscopy on cerebrospinal fluid and urine samples of 44 patients with leukodystrophies of unknown cause. Free sialic acid concentration was increased in cerebrospinal fluid of two siblings with mental retardation and mild hypomyelination. By contrast, urinary excretion of free sialic acid in urine was normal on repeated testing by two independent methods. Both patients were homozygous for the K136E mutation in SLC17A5, the gene responsible for the free sialic acid storage diseases. Our findings demonstrate that mutations in the SLC17A5 gene have to be considered in patients with hypomyelination, even in the absence of sialuria.
authors: Institut National de la Sante et de la Recherche Médicale UMR S679, Hôpital La Salpêtrière, Paris, France. fanny.mochel@baylorhealth.edu
authors: Fanny
authors: F
authors: Mochel
authors: Bingzhi
authors: B
authors: Yang
authors: Julie
authors: J
authors: Barritault
authors: Jerry N
authors: JN
authors: Thompson
authors: Udo F H
authors: UF
authors: Engelke
authors: Nathan H
authors: NH
authors: McNeill
authors: William S
authors: WS
authors: Benko
authors: Christine R
authors: CR
authors: Kaneski
authors: David R
authors: DR
authors: Adams
authors: Maria
authors: M
authors: Tsokos
authors: Mones
authors: M
authors: Abu-Asab
authors: Marjan
authors: M
authors: Huizing
authors: Francois
authors: F
authors: Seguin
authors: Ron A
authors: RA
authors: Wevers
authors: Jiahuan
authors: J
authors: Ding
authors: Frans W
authors: FW
authors: Verheijen
authors: Raphael
authors: R
authors: Schiffmann
mesh_terms: D000293:Adolescent; D002648:Child; D003937:Diagnosis, Differential; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000235:genetics / Q000652:urine; D006801:Humans; D019158:N-Acetylneuraminic Acid / Q000134:cerebrospinal fluid* / Q000235:genetics / Q000652:urine; D019906:Nuclear Magnetic Resonance, Biomolecular / Q000379:methods; D027361:Organic Anion Transporters / Q000235:genetics*; D029461:Sialic Acid Storage Disease / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000235:genetics* / Q000652:urine; D027981:Symporters / Q000235:genetics*; D055815:Young Adult
chemical_list: D027361:Organic Anion Transporters; D027981:Symporters; C421224:sialic acid transport proteins; D019158:N-Acetylneuraminic Acid