Amish Infantile Epilepsy Syndrome

mutation in GM3 synthetase

Also Known As:

Epilepsy Syndrome, Infantile-Onset Symptomatic; GM3 Synthase Deficiency

Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Epilepsy: 37791
      - Amish Infantile Epilepsy Syndrome: 9
Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Transferases: 6589
    - Glycosyltransferases: 784
      - Sialyltransferases: 490
        Amish Infantile Epilepsy Syndrome: 9

Related Diseases

1.	Neurodevelopmental Disorders
2.	Inborn Genetic Diseases (Disease, Hereditary)
3.	Hereditary Spastic Paraplegia

Experts

1.	Dastgheib, Seyed Alireza: 1 article (08/2021)
2.	Dehghanian, Fatemeh: 1 article (08/2021)
3.	Dianatpour, Mehdi: 1 article (08/2021)
4.	Farbod, Zahra: 1 article (08/2021)
5.	Khamirani, Hossein Jafari: 1 article (08/2021)
6.	Manoochehri, Jamal: 1 article (08/2021)
7.	Mohammadi, Sanaz: 1 article (08/2021)
8.	Mollaie, Maryam: 1 article (08/2021)
9.	Sharifi, Zahra: 1 article (08/2021)
10.	Tabei, Seyed Mohammad Bagher: 1 article (08/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Amish Infantile Epilepsy Syndrome:

1.	SialyltransferasesIBA 03/01/2023 - "Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency." 11/01/2018 - "GM3 synthase deficiency is due to biallelic pathogenic variants in ST3GAL5, which encodes a sialyltransferase that synthesizes ganglioside GM3. " 09/07/2023 - "GM3 Synthase Deficiency (GM3SD) is a neurodevelopmental disorder resulting from pathogenic variants in the ST3GAL5 gene, which encodes GM3 synthase, a glycosphingolipid (GSL)-specific sialyltransferase. " 01/01/2023 - "GM3 synthase deficiency is due to any pathogenic mutation in the ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 5 (ST3GAL5) gene, which encodes the sialyltransferase enzyme that synthesizes ganglioside GM3. "
2.	GlycosphingolipidsIBA 01/01/2021 - "De novo glycosphingolipid (GSL) biosynthesis defects cause severe neurological diseases, including hereditary sensory and autonomic neuropathy type 1A (HSAN1A), GM3 synthase deficiency, and hereditary spastic paraplegia type 26 (HSPG26), each lacking effective treatment. " 09/07/2023 - "GM3 Synthase Deficiency (GM3SD) is a neurodevelopmental disorder resulting from pathogenic variants in the ST3GAL5 gene, which encodes GM3 synthase, a glycosphingolipid (GSL)-specific sialyltransferase. "
3.	G(M3) GangliosideIBA 11/01/2018 - "GM3 synthase deficiency is due to biallelic pathogenic variants in ST3GAL5, which encodes a sialyltransferase that synthesizes ganglioside GM3. " 01/01/2023 - "GM3 synthase deficiency is due to any pathogenic mutation in the ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 5 (ST3GAL5) gene, which encodes the sialyltransferase enzyme that synthesizes ganglioside GM3. "
4.	SaltsIBA 08/12/2021 - "GM3 synthase deficiency is associated with salt and pepper developmental regression syndrome (SPDRS), a rare genetic disorder. "
5.	Glucose (Dextrose)FDA LinkGeneric 12/01/2022 - "GM3 synthase deficiency increases brain glucose metabolism in mice."
6.	GangliosidesIBA 01/01/2016 - "There have been a few reports of GM3 synthase deficiency since the disease of the ganglioside biosynthetic pathway was first reported in 2004. "
7.	EnzymesIBA 01/01/2023 - "GM3 synthase deficiency is due to any pathogenic mutation in the ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 5 (ST3GAL5) gene, which encodes the sialyltransferase enzyme that synthesizes ganglioside GM3. "
8.	beta-Galactoside alpha-2,3-SialyltransferaseIBA 01/01/2023 - "GM3 synthase deficiency is due to any pathogenic mutation in the ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 5 (ST3GAL5) gene, which encodes the sialyltransferase enzyme that synthesizes ganglioside GM3. "
9.	haematoside synthetaseIBA 09/07/2023 - "GM3 Synthase Deficiency (GM3SD) is a neurodevelopmental disorder resulting from pathogenic variants in the ST3GAL5 gene, which encodes GM3 synthase, a glycosphingolipid (GSL)-specific sialyltransferase. "

Therapies and Procedures

1.	Therapeutics 01/01/2019 - "Largest Description of ST3GAL5 (GM3 synthase) Deficiency May Provide Baseline for Future Therapies: Detailed natural history data combined with objective measures of tissue function was used to create the largest description of ST2GAL5 defi ciency to date."