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glut1-deficiëntie: een diagnose die makkelijk gemist wordt

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Tijdschrift voor kindergeneeskunde

Summary

glut1 (glucose transport protein type 1) deficiency syndrome causes reduced blood brain barrier glucose transport. The most important factor in laboratory tests is low glucose concentration in csf. In a retrospective analysis of results from csf examinations in the University Hospital Groningen between 1990-2001 we included patients (n=8) with an unexplained csf-serum glucose ratio of < 0.5 or a CSF glucose concentration of < 2.5 mM and csf leucocytes < 4/μl. Two of the patients were eventually diagnosed as possibly glut1 deficient, using an erythrocyte-3-O-methyl-D-glucose uptake test. Our advice is to determine the glucose csf-serum ratio in every patient with (therapy resistant) epilepsy complicated by ataxia, spasticity and/or psychomotor disability. If this ratio is decreased, glut1 deficiency syndrome can be confirmed by a erythrocyte-3-O-methyl-D-glucose uptake test and a dna analysis.

Samenvatting

Het glut1 (glucosetransporteiwit type 1)-deficiëntiesyndroom berust op een verminderd transport van glucose over de bloed-hersenbarrière. Het meest kenmerkende bij aanvullend onderzoek is een verlaagde glucoseconcentratie in de liquor. Bij retrospectieve herevaluatie van liquoruitslagen van het Academisch Ziekenhuis Groningen over de jaren 1990-2001 werden patiënten geïncludeerd indien ze een onverklaarde liquor-serumratio van glucose van < 0,5 óf een glucoseconcentratie in de liquor < 2,5 mM hadden én een leukocytengehalte < 4/μl. Uiteindelijk werden na diagnostiek door middel van een erytrocyt-3-O-methyl-D-glucose-opnametest (n=8) twee patiënten als mogelijk glut1-deficiënt gediagnosticeerd. Ons advies is bij elke patiënt met (therapieresistente) epilepsie in combinatie met ataxie, spasticiteit en/of psychomotore retardatie de liquor-serumratio van glucose te bepalen. Indien deze verlaagd is, kan het glut1-deficiëntiesyndroom bevestigd worden door middel van een erytrocyt-3-O-methyl-D-glucose-opnametest en een mutatieanalyse.

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  1. www.bsl.nl/shop/tydschrift-vkindergeneeskunde-0376-7442.html

    M. E. Pouwels

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  1. M. E. Pouwels
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  2. M. A. A. P. Willemsen
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  3. M. M. Verbeek
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  4. R. J. Soorani-Lunsing
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Additional information

Drs. M.E. Pouwels, neuroloog i.o., afdeling Neurologie, Academisch Ziekenhuis Groningen. Dr. M.A.A.P. Willemsen, kinderneuroloog, afdeling Kinderneurologie, Universitair Medisch Centrum Nijmegen. Dr. M.M. Verbeek, biochemicus, Laboratorium voor Kindergeneeskunde en Neurologie, Universitair Medisch Centrum Nijmegen. Dr. R.J. Soorani-Lunsing, kinderneuroloog, afdeling Kinderneurologie, Academisch Ziekenhuis Groningen.

Correspondentieadres: R.J. Soorani-Lunsing, afdeling Kinderneurologie, Academisch Ziekenhuis Groningen, Hanzeplein 1, Postbus 30001, 9700 RB Groningen,

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Pouwels, M.E., Willemsen, M.A.A.P., Verbeek, M.M. et al. glut1-deficiëntie: een diagnose die makkelijk gemist wordt. KIND 72, 106–109 (2004). https://doi.org/10.1007/BF03061494

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