encephalopathy due to GLUT1 deficiency
Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.
MONDO:0000188
GLUT1 deficiency syndrome
is_a
MONDO:0019226
glucose transport disorder
is_a
De Vivo disease
exact
G1D
related
GLUT1 DS
related
GLUT1 deficiency syndrome
related
GLUT1 deficiency syndrome 1
related
GLUT1 deficiency syndrome 1, infantile onset, severe
exact
GLUT1 deficiency syndrome type 1
exact
GLUT1-DS
exact
GLUT1DS1
related
Glucose Transporter Type 1 Deficiency Syndrome
exact
encephalopathy due to GLUT1 deficiency
exact
glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, included
related
glucose transport defect, blood-brain barrier
related
glucose transporter Protein syndrome
related
glucose transporter protein syndrome
related
glucose transporter type 1 deficiency
exact
glucose transporter type 1 deficiency syndrome
related
glucose transporter type1 (glut-1) deficiency
related
glut-1 deficiency syndrome
exact