Abstract
GLUT-1-deficiency syndrome (GLUT1-DS; OMIM 606777) is a treatable metabolic disorder caused by a mutation of SLC2A1 gene. The functional deficiency of the GLUT1 protein leads to an impaired glucose transport into the brain, resulting in neurologic disorders.
We report on a 6-month-old boy with preprandial malaises who was treated monthly by a sorcerer because of a permanent acetonemic odor. He subsequently developed pharmaco-resistant seizures with microcephaly and motor abnormalities. Metabolic explorations were unremarkable except for a fasting glucose test which revealed an abnormal increase of blood ketone bodies. At the age of 35 months, GLUT1-DS was diagnosed based on hypoglycorrhachia with a decreased CSF to blood glucose ratio, and subsequent direct sequencing of the SLC2A1 gene revealed a de novo heterozygous mutation, c.349A>T (p.Lys117X) on exon 4. It was noteworthy that the patient adapted to the deficient cerebral glucose transport by permanent ketone body production since early life. Excessive ketone body production in this patient provided an alternative energy substrate for his brain. We suggest a cerebral metabolic adaptation with upregulation of monocarboxylic acid transporter proteins (MCT1) at the blood–brain barrier provoked by neuroglycopenia and allowing ketone body utilization by the brain. This case illustrates that GLUT1-DS should be considered in the differential diagnosis of permanent ketosis.
Competing interests: None declared
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Communicated by: Verena Peters
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Take Home Message
GLUT1-DS can present with spontaneous ketosis, reflecting a cerebral metabolic adaptation, and should be considered in the differential diagnosis of permanent ketosis.
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Alexis Chenouard, Sandrine Vuillaumier-Barrot, Nathalie Seta, and Alice Kuster declare that they have no conflict of interest.
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This article does not contain any studies with human or animal subjects performed by any of the authors.
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Patient investigation and care of the patient and planning: AK, AC.
Patient investigation (molecular analysis): SV-B, NS.
Reporting of the work described in the article: AC, SV-B, NS, AK.
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Chenouard, A., Vuillaumier-Barrot, S., Seta, N., Kuster, A. (2014). A Cause of Permanent Ketosis: GLUT-1 Deficiency. In: Zschocke, J., Baumgartner, M., Morava, E., Patterson, M., Rahman, S., Peters, V. (eds) JIMD Reports, Volume 18. JIMD Reports, vol 18. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2014_352
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DOI: https://doi.org/10.1007/8904_2014_352
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