Free sialic acid storage disease without sialuria.
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.
Mochel
Fanny
F
Institut National de la Sante et de la Recherche Médicale UMR S679, Hôpital La Salpêtrière, Paris, France. fanny.mochel@baylorhealth.edu
Yang
Bingzhi
B
Barritault
Julie
J
Thompson
Jerry N
JN
Engelke
Udo F H
UF
McNeill
Nathan H
NH
Benko
William S
WS
Kaneski
Christine R
CR
Adams
David R
DR
Tsokos
Maria
M
Abu-Asab
Mones
M
Huizing
Marjan
M
Seguin
Francois
F
Wevers
Ron A
RA
Ding
Jiahuan
J
Verheijen
Frans W
FW
Schiffmann
Raphael
R
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
D027361:Organic Anion Transporters; D027981:Symporters; C421224:sialic acid transport proteins; D019158:N-Acetylneuraminic Acid