Document Type
Article
Publication Date
5-1-2016
Publication Title
Clinical Genetics
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.
Recommended Citation
Wang, H.; Wang, A.; Wang, Dan; Bright, A.; Sency, V.; Zhou, Aimin; and Xin, B., "Early Growth and Development Impairments in Patients with Ganglioside GM3 Synthase Deficiency" (2016). Chemistry Faculty Publications. 386.
https://engagedscholarship.csuohio.edu/scichem_facpub/386
DOI
10.1111/cge.12703
Version
Postprint
Publisher's Statement
This is the accepted version of the following article: Wang, H.; Wang, A.; Wang, D.; Bright, A.; Sency, V.; Zhou, A.; Xin, B. Early growth and development impairments in patients with ganglioside GM3 synthase deficiency. Clin. Genet. 2016, 89, 625-629., which has been published in final form at http://onlinelibrary.wiley.com/doi/10.1111/cge.12703/abstract
Volume
89
Issue
5
Comments
The study was supported in part by The Elisabeth Severance Prentiss Foundation, The Reinberger Foundation, The Leonard Krieger Fund of the Cleveland Foundation (L2009-0078), The William Bingham Foundation and Zverina Family Foundation.