Salt and pepper syndrome

Salt and pepper syndrome
Other namesAmish infantile epilepsy syndrome, ST3GAL5-CDG, Salt and pepper mental retardation syndrome, Infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness, Epilepsy syndrome, infantile-onset symptomatic[1][2][3]
SpecialtyMedical genetics
Usual onsetChildhood
CausesGenetic mutation
Preventionnone

Salt and pepper developmental regression syndrome, also known as Amish infantile epileptic syndrome[4] or GM3 deficiency syndrome,[5] is a rare autosomal recessive progressive neurological disorder characterized by developmental delay, severe intellectual disability, seizures, and skin pigmentation irregularities.[6][7][8][9] The clinical symptoms of this condition start manifesting soon after birth, during the newborn/neo-natal stage of life.[10]

  1. ^ "GM3 synthase deficiency". NORD (National Organization for Rare Disorders). Retrieved 2022-10-09.
  2. ^ "salt and pepper mental retardation syndrome | Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Retrieved 2022-10-09.
  3. ^ "GM3 Synthase Deficiency via the ST3GAL5 Gene Test - PreventionGenetics". www.preventiongenetics.com. Retrieved 2022-10-10.
  4. ^ "Amish infantile epilepsy syndrome | Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Retrieved 2022-10-09.
  5. ^ "GM3 Synthase Deficiency | Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Retrieved 2022-10-09.
  6. ^ Cite error: The named reference :3 was invoked but never defined (see the help page).
  7. ^ "UniProt". www.uniprot.org. Retrieved 2022-10-10.
  8. ^ Gordon-Lipkin E, Cohen JS, Srivastava S, Soares BP, Levey E, Fatemi A (November 2018). "ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis". Journal of Child Neurology. 33 (13): 825–831. doi:10.1177/0883073818791099. PMC 6188822. PMID 30185102.
  9. ^ admin (2021-09-10). "Salt and Pepper Developmental Regression Syndrome (ST3GAL5)". Sema4. Retrieved 2022-10-10.
  10. ^ Cite error: The named reference :4 was invoked but never defined (see the help page).