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Published on: October 4, 2017
Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia)
S Kjaergaard1, J Müller, F Skovby
1Department of Clinical Genetics, University Hospital Rigshospitalet, Copenhagen, Denmark. Susanne@rh.dk
Insights
Children with congenital disorder of glycosylation type Ia (CDG-Ia) experience severe postnatal growth failure, particularly in the first seven months, with no catch-up growth before puberty.
Area of Science:
- Pediatric Endocrinology
- Metabolic Disorders
- Genetics
Background:
- Congenital disorder of glycosylation type Ia (CDG-Ia) is a rare genetic condition.
- Growth failure is a significant clinical manifestation in CDG-Ia patients.
Purpose of the Study:
- To characterize the growth patterns in prepubertal children with CDG-Ia.
- To identify critical periods and potential causes of growth failure in CDG-Ia.
Main Methods:
- Longitudinal growth data (weight, length, head circumference) from 25 CDG-Ia patients (R141H/F119L PMM2 genotype) were analyzed from birth to 10 years.
- Data were compared to standard growth curves using standard deviation scores (SDS).
- Linear mixed-effects models were used to estimate mean growth curves.
Main Results:
- Patients exhibited normal fetal growth but severe postnatal growth failure starting immediately after birth.
- Mean weight and length SDS significantly declined within the first 7 months of life.
- Head circumference SDS showed a gradual decline, and BMI SDS decreased significantly by age 2.
Conclusions:
- CDG-Ia patients with the R141H/F119L genotype experience rapid postnatal growth deceleration.
- Severe growth failure occurs within the first year, with no compensatory catch-up growth observed prepubertally.
Aims:
To delineate the pattern of growth in prepubertal children with congenital disorder of glycosylation type Ia (CDG-Ia) 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-Ia 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-Ia patients with the R141H/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.
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