HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Suhonen-Polvi, H. Articles by Aula, P. Search for Related Content PubMed PubMed Citation Articles by Suhonen-Polvi, H. Articles by Aula, P.

Increased Brain Glucose Utilization in Salla Disease (Free Sialic Acid Storage Disorder)

Departments of Pediatric Neurology, Medical Genetics, Anesthesiology and Clinical Neurophysiology, University of Turku, Turku
Turku PET Center, Turku
Department of Pediatrics, University of Oulu, Oulu
Department of Obstetrics and Gynecology, University of Helsinki, Helsinki, Finland

Correspondence: For correspondence or reprints contact: Tarja Varho, MD, Department of Medical Genetics, University of Turku, FIN-20520, Turku, Finland.

ABSTRACT

Salla disease is an autosomal recessive lysosomal free sialic acid storage disorder characterized by psychomotor retardation and ataxia. MRI studies have revealed evidence of dysmyelination, but the biological mechanism of the brain dysfunction is unknown. Methods: Nine patients with Salla disease (age 2.5 mo–42 y) presenting the disease in varying degrees of severity were studied by PET using 2-fluoro-2-deoxy-D-glucose (FDG) as a tracer. Local cerebral metabolic rates for glucose (LCMRGIc) in individual brain regions were compared with controls. Results: The FDG PET results showed significantly increased LCMRGIc values in the frontal and sensorimotor cortex and especially in the basal ganglia of the patients. Cerebellar hypometabolism was present in all seven patients with marked ataxia, whereas the less severely affected patients without obvious ataxia had normal or even high glucose uptake in the cerebellum. Conclusion: The increased cerebral glucose utilization is a constant finding in Salla disease and may reflect the basic defect of the sialic acid metabolism in this disorder. The FDG PET findings in the cerebellum suggest a correlation between glucose uptake and the severity of the clinical symptoms.

Key Words: Salla disease • PET • fluorodeoxyglucose • cerebral metabolism

This article has been cited by other articles:

				A. L. Sunehag, G. Toffolo, M. S. Treuth, N. F. Butte, C. Cobelli, D. M. Bier, and M. W. Haymond Effects of Dietary Macronutrient Content on Glucose Metabolism in Children J. Clin. Endocrinol. Metab., November 1, 2002; 87(11): 5168 - 5178. [Abstract] [Full Text] [PDF]

				T. Varho, M. Komu, P. Sonninen, I. Holopainen, S. Nyman, T. Manner, M. Sillanpaa, P. Aula, and N. Lundbom A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease Neurology, May 1, 1999; 52(8): 1668 - 1668. [Abstract] [Full Text] [PDF]