Early growth and development impairments in patients with ganglioside GM3 synthase deficiency

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...

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Bibliographic Details
Published in:Clinical genetics 2016-05, Vol.89 (5), p.625-629
Main Authors: Wang, H., Wang, A., Wang, D., Bright, A., Sency, V., Zhou, A., Xin, B.
Format: Article
Language:English
Subjects:
Adolescent
Birth Weight - genetics
Body Weight - genetics
Child
Child, Preschool
Disease Progression
DNA Mutational Analysis
Enzymes
Epilepsy - genetics
Epilepsy - pathology
Female
Fetal Development - genetics
G(M3) Ganglioside - metabolism
ganglioside GM3 synthase deficiency
Genetic disorders
Genetic Predisposition to Disease - genetics
Humans
Infant
Infant, Newborn
Intellectual disabilities
Male
Mutation
Newborn babies
phenotype
Physical growth
Sialyltransferases - deficiency
Sialyltransferases - genetics
Siblings
ST3GAL5
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Summary: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.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.12703