Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia).
OBJECTIVE
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.


CONCLUSIONS
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.
Kjaergaard
S
S
Department of Clinical Genetics, University Hospital Rigshospitalet, Copenhagen, Denmark. Susanne@rh.dk
Müller
J
J
Skovby
F
F
D000293:Adolescent; D000886:Anthropometry; D001827:Body Height; D015992:Body Mass Index; D001835:Body Weight; D002508:Cephalometry; D002648:Child; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000150:complications* / Q000503:physiopathology / Q000628:therapy; D004750:Enteral Nutrition; D005260:Female; D006130:Growth Disorders / Q000209:etiology*; D006257:Head / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008137:Longitudinal Studies; D008297:Male; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency
D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase