Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases.
Neurology
; 74(4): 302-5, 2010 Jan 26.
Article
en En
| MEDLINE
| ID: mdl-20101035
OBJECTIVE: To investigate body fluids of patients with undiagnosed leukodystrophies using in vitro (1)H-NMR spectroscopy (H-NMRS). METHODS: We conducted a cross-sectional study using high-resolution in vitro H-NMRS on CSF and urine samples. RESULTS: We found a significant increase of free sialic acid in CSF or urine in 6 of 41 patients presenting with hypomyelination of unknown etiology. Molecular genetic testing revealed pathogenic mutations in the SLC17A5 gene in all 6 patients. H-NMRS revealed an increase of N-acetylaspartylglutamate in the CSF of all patients with SLC17A5 mutation (range 13-114 micromol/L, reference <12 micromol/L). CONCLUSION: In patients with undiagnosed leukodystrophies, increased free sialic acid in CSF or urine is a marker for free sialic acid storage disorder and facilitates the identification of the underlying genetic defect. Because increase of N-acetylaspartylglutamate in CSF has been observed in other hypomyelinating disorders, it can be viewed as a marker of a subgroup of hypomyelinating disorders.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades Desmielinizantes
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Enfermedad por Almacenamiento de Ácido Siálico
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Transportadores de Anión Orgánico
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Simportadores
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Dipéptidos
Tipo de estudio:
Etiology_studies
/
Observational_studies
/
Prevalence_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adult
/
Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
Neurology
Año:
2010
Tipo del documento:
Article
País de afiliación:
Francia
Pais de publicación:
Estados Unidos