Klinische FragestellungGlukosetransporter-Typ-1-Mangel-Syndrom, klassisches; Differentialdiagnose

NGS +

• Alias: De Vivo Disease
• Alias: Encephalopathy due to GLUT1 deficiency
• Alias: Glucose transport defect, blood-brain barrier
• Alias: Glucose transporter protein syndrome
• Alias: Glucose transporter type 1 deficiency syndrome
• Alias: Glut1 Deficiency Syndrome
• 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH)
• Angelman syndrome (UBE3A)
• Congenital disorder of glycosylation, type Ia (PMM2)
• Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
• Diabetes mellitus, insulin-dependent, 20 (HNF1A)
• Diabetes mellitus, transient neonatal 3 (KCNJ11)
• Diabetes, permanent neonatal 2, with/-out neurologic features (KCNJ11)
• Encephalopathy, neonatal severe (MECP2)
• Episodic kinesigenic dyskinesia 1 (PRRT2)
• Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young (HNF4A)
• Glucose Transporter Type 1 Deficiency Syndrome (SLC2A1)
• Hyperinsulinemic hypoglycemia, familial, 1 (ABCC8)
• Hyperinsulinemic hypoglycemia, familial, 2 (KCNJ11)
• Hyperinsulinemic hypoglycemia, familial, 3 (GCK)
• Hyperinsulinemic hypoglycemia, familial, 4 (HADH)
• Hyperinsulinemic hypoglycemia, familial, 7 (SLC16A1)
• Hyperinsulinism-hyperammonemia syndrome (GLUD1)
• Hypoglycemia of infancy, leucine-sensitive (ABCC8)
• MODY, type I (HNF4A)
• MODY, type III (HNF1A)
• Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1)
• Neurodevelopmental disorder with visual defects and brain anomalies (HK1)
• Obesity, susceptibility to, BMIQ4 (UCP2)
• Paroxysmal nonkinesigenic dyskinesia 1 (PNKD)
• Primary aldosteronism, seizures, and neurologic abnormalities (CACNA1D)
• Rett syndrome (MECP2)
• Rett syndrome, atypical (MECP2)
• Rett syndrome, preserved speech variant (MECP2)
• Seizures, benign familial infantile, 2 (PRRT2)