GLUT1 deficit syndrome

Classification according to ICD-10
G93.4	Encephalopathy, unspecified
ICD-10 online (WHO version 2019)

Magnetic resonance imaging of a normal skull (left) and microcephaly (right). The microcephaly in this case is caused by a mutation in the ASPM gene .

The GLUT1 deficiency syndrome , also known as encephalopathy by GLUT1 defect referred to, is an extremely rare, autosomal - dominant inherited disease.

Etiology, genetics and disease course

The cause of the disease is a mutation of the SLC2A1 gene on chromosome 1 gene locus p35-p31.3. These are mostly new mutations. The gene product GLUT1 is a membrane protein consisting of 492 amino acids . GLUT1 is an important membrane transporter for glucose , a glucose transporter . The range of mutations is wide. Large deletions , small deletions, nonsense mutations and missense mutations were found in the affected patients .

The GLUT1 deficit syndrome is inherited in an autosomal dominant manner. In the case of inheritance, one parent usually has a mild form of the syndrome. The disease manifests itself neonatally or in infancy and is caused by a lack of GLUT1 transporters in the endothelium of the blood-brain barrier . As a result, the brain is not adequately supplied with D- glucose and the affected patients show, among other things, microcephaly , psychomotor retardation, ataxia and a number of other neurological disorders. However, the phenotype is very different and various atypical variants have been described so far.

The GLUT1 deficit syndrome is an extremely rare hereditary disease. From 1991, the year it was first described, to 2002, fewer than 100 patients were described with this disease.

therapy

The GLUT1 deficit syndrome is currently not curable. With the help of a ketogenic diet , the symptoms can be controlled or at least alleviated. The diet should be started as early as possible and continued through puberty. While adults consume around 20% of the total glucose in the body in the brain, the proportion is up to 80% in children.

literature

• K. Brockman et al. a .: Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. In: Ann Neurol 50, 2001, pp. 476-485, PMID 11603379 .

Web links

• GLUT1 deficit syndrome.  In: Online Mendelian Inheritance in Man . (English)
• GLUT1 deficit syndrome. In: Orphanet (Rare Disease Database).

Individual evidence

1. ↑ J. Klepper et al. a .: Autosomal dominant transmission of GLUT1 deficiency. In: Hum Molec Genet 10, 2001, pp. 63-68, PMID 11136715
2. ↑ D. Wang et al. a .: Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. In: Hum Mutat 16, 2000, pp. 224-231, PMID 10980529
3. ↑ ^{a b} D. C. De Vivo et al. a .: Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. In: NEJM 325, 1991, pp. 703-709, PMID 1714544
4. ↑ J. Klepper: Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet. In: Epilepsia 49, 2008, pp. 46-49, PMID 19049586
5. ↑ ^{a b} J. nag and T. Voit: Facilitated glucose transporter protein type 1 (Glut1) deficiency syndrome: impaired glucose transport into brain - a review. In: Eur J Pediatr 161, 2002, pp. 295–304, PMID 12029447 (Review)
6. ↑ D. Wang et al. a .: Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. In: Ann Neurol 57, 2005, pp. 111-118, PMID 15622525
7. ^ J. Klepper and B. Leiendecker: GLUT1 deficiency syndrome - 2007 update. In: Dev Med Child Neurol 49, 2007, pp. 707-716, PMID 17718830 (Review)

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !