GLUT-1 DEFICIENCY SYNDROME (GLUT1DS1)

Question 1

What is  GLUT-1 DEFICIENCY SYNDROME (GLUT1DS1)?

Accepted Answer

rare
autosomal dominant

autosomal recessive (rare)

mutation in the SLC2A1 gene

- classic Glut1 DS (~90%)
- non-epileptic Glut1 DS (~10%)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Enzephalopathie durch GLUT1-Defekt; Glukosetransporter Typ 1-Mangel-Syndrom; De Vivo-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 606777

Question 4

Which enzymes are involved?

Accepted Answer

Solute carrier family 2, facilitated glucose transporter member 1

Disease	GLUT-1 DEFICIENCY SYNDROME (GLUT1DS1)
Synonym	DEVIVO SYNDROME; GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER
OMIM	606777 OMIM = Online Mendelian Inheritance of Men
Orphanet	71277
Protein (UniProt)	Solute carrier family 2, facilitated glucose transporter member 1
Gene locus	1p34.2
ICD	G93.4
Summary	rare autosomal dominant autosomal recessive (rare) mutation in the SLC2A1 gene - classic Glut1 DS (~90%) - non-epileptic Glut1 DS (~10%)
Laboratory findings	D-Glucose dec (cerebrospinal fluid) D-Glucose inc (urine) Glucose ratio (CSF/P) dec (urine) L-Lactic acid normal/dec (cerebrospinal fluid)
Symptoms	abnormal movement anemia ataxia chorea or athetosis developmental delay dystonia hypertonia, spasticity hypotonia intellectual disability/intellectual developmental disorder myoclonus Parkinsonism seizures tremor or twitching cognitive impairment dysarthria EEG abnormalities [-] encephalopathy epilepsy eye movements, abnormal hyperreflexia hypoglycorrachia learning disability lethargy, drowsiness, apathy leukoencephalopathy mental retardation microcephaly (<2 SD for age) onset, infancy onset, neonatal paraparesis/paraplegia paresis skeletal changes, skeletal abnormalities speech development, delayed, abnormal