title: Early growth and development impairments in patients with ganglioside GM3 synthase deficiency.
abstract: Ganglioside GM3 synthase is a key enzyme involved in the biosynthesis of gangliosides. GM3 synthase deficiency (GSD) causes a complete absence of GM3 and all downstream biosynthetic derivatives. The individuals affected by this disorder manifest severe irritability, intractable seizures and profound intellectual disability. However, we have found that most newborns seem symptom-free for a period of time after birth. In order to further understand the onset of the disease, we investigated the early growth and development of patients with this condition through this study. We compared 37 affected individuals with their normal siblings and revealed that all children with GSD had relatively normal intrauterine growth and development, as their weight, length and head circumference were similar to their normal siblings at birth. However, the disease progresses quickly after birth and causes significant constitutional impairments of growth and development by 6 months of age. Neither breastfeeding nor gastrostomy tube placement made significant difference on growth and development as all groups of patients showed the similar pattern. We conclude that GSD causes significant postnatal growth and developmental impairments and the amount of gangliosides in breast milk and general nutritional intervention do not seem to alter these outcomes.
authors.affiliation: DDC Clinic Center for Special Needs Children, Middlefield, OH, USA.|Department of Pediatrics, Case Western Reserve University School of Medicine, Cleveland, OH, USA.|Department of Pediatrics, Rainbow Babies & Children's Hospital, Cleveland, OH, USA.|Department of Molecular Cardiology, Cleveland Clinic, Cleveland, OH, USA.
authors.forename: H
authors.initials: H
authors.lastname: Wang
authors.affiliation: DDC Clinic Center for Special Needs Children, Middlefield, OH, USA.
authors.forename: A
authors.initials: A
authors.lastname: Wang
authors.affiliation: DDC Clinic Center for Special Needs Children, Middlefield, OH, USA.
authors.forename: D
authors.initials: D
authors.lastname: Wang
authors.affiliation: DDC Clinic Center for Special Needs Children, Middlefield, OH, USA.
authors.forename: A
authors.initials: A
authors.lastname: Bright
authors.affiliation: DDC Clinic Center for Special Needs Children, Middlefield, OH, USA.
authors.forename: V
authors.initials: V
authors.lastname: Sency
authors.affiliation: Department of Chemistry, Cleveland State University, Cleveland, OH, USA.
authors.forename: A
authors.initials: A
authors.lastname: Zhou
authors.affiliation: DDC Clinic Center for Special Needs Children, Middlefield, OH, USA.
authors.forename: B
authors.initials: B
authors.lastname: Xin
mesh_terms: D000293:Adolescent; D001724:Birth Weight / Q000235:genetics; D001835:Body Weight / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004827:Epilepsy / Q000235:genetics* / Q000473:pathology; D005260:Female; D047109:Fetal Development / Q000235:genetics*; D005679:G(M3) Ganglioside / Q000378:metabolism*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D012799:Sialyltransferases / Q000172:deficiency* / Q000235:genetics; D035781:Siblings
chemical_list: D005679:G(M3) Ganglioside; D012799:Sialyltransferases; C021343:haematoside synthetase
keywords: ST3GAL5; ganglioside GM3 synthase deficiency; mutation; phenotype