Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia)
نویسندگان
چکیده
منابع مشابه
Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia).
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 da...
متن کاملCongenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype.
AIMS To delineate common and variable features and outcome of children with congenital disorder of glycosylation type Ia (CDG-Ia) caused by the frequent R141H/F119L PMM2 genotype. METHODS Clinical data on 25 patients (mean age 7.6 years, range 0-19) were analysed. RESULTS All patients had an early presentation with severe feeding problems and failure to thrive, hypotonia, hepatic dysfunctio...
متن کاملMacular Hypoplasia in Congenital Disorder of Glycosylation Type Ia
Congenital disorders of glycosylation are a rare group of metabolic disorders that can result in multiorgan disease. This article describes a novel finding of macular hypoplasia in congenital disorders of glycosylation type Ia.
متن کاملIncreased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion.
C ongenital disorders of glycosylation type Ia or CDG-Ia (MIM 212065) is the most common type of a group of recessive disorders characterised by deficient glycosylation. The disease is caused by mutations in the PMM2 gene, coding for a phosphomannomutase (PMM). PMM converts mannose-6-phosphate to mannose-1-phosphate, a precursor of the mannosyl donor in N-and O-glycosylation and the synthesis o...
متن کاملIdentification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients.
We screened 11 unrelated French patients with congenital disorders of glycosylation (CDG) Ia for PMM2 mutations. Twenty one missense mutations on the 22 chromosomes (95%) including four novel mutations were identified: C9Y (G26A) in exon 1, L32R (TA95GC) in exon 2, and T226S (C677G) and C241S (G722C) in exon 8. We studied the PMM activity of these four novel mutant proteins and of the R141H mut...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 2002
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.87.4.324