Prepubertal growth in congenital disorder of glycosylation type la (CDG-1a)

Aims: To delineate the pattern of growth in prepubertal children with congenital disorder of glycosylation type la (CDG-la) in order to identify critical period(s) and possible cause(s) of growth failure. Methods: Longitudinal measurements of weight, length/height, and head circumference from birth to 10 years of age in 25 CDG-la patients with the R141H/F119L PMM2 genotype were analysed. The data and derived body mass indices (BMI) were compared with standards and expressed as standard deviation scores (SDS). A linear mixed effects model was fitted to each set of data, and mean curves were estimated. Results: The mean weight SDS decreased from -0.3 at birth to -3.0 at 7 months of age and remained low or increased slightly. The mean length SDS decreased from zero at birth to -2.4 at 7 months of age followed by a slight increase to a maximum of -1.8 SDS at the end of the second year of life. After age 2 the mean length/height SDS decreased again. The mean BMI SDS at birth was -0.7 and declined to a minimum of -2.8 at the end of the second year of life followed by a gradual increase. The mean head circumference SDS declined gradually from 0 at 3 months of age to -1.9 at age 5. Conclusion: CDG-la patients with the R 141H/F119L genotype have normal fetal growth and an immediate postnatal onset of severe growth failure. A notable decline in weight end length SDS takes place during the first seven months of life with no prepubertal catch up.