Macular Hypoplasia in Congenital Disorder of Glycosylation Type Ia
نویسندگان
چکیده
منابع مشابه
Macular 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 کاملPrepubertal 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 کاملCongenital disorder of glycosylation type Ia: a non-progressive encephalopathy associated with multisystemic involvement.
Dr. Jaime Moritz Brum – Laboratório de Genética Bioquímica 00SMHS Quadra 501 Bloco A 70335-901 Brasília DF Brasil. E-mail: [email protected] Congenital disorders of glycosylation (CDG) are a group of severe, autosomal recessive, multisystemic diseases, characterized by abnormal glycosylation of glycoproteins and glycolipids. The first disease of this group was reported in 1980. Since then, at leas...
متن کاملLeukocyte phosphomannomutase activity in diagnosis of congenital disorder of glycosylation Ia.
Phosphomannomutase (PMM; EC 5.4.2.8) is a cytosolic enzyme that catalyzes the reversible conversion of mannose 6-phosphate to mannose 1-phosphate, a substrate for the synthesis of GDP-mannose, which is a nucleotide sugar required in glycosylation. Previously known in yeast (1, 2), Van Schaftingen and Jaeken (3 ) described the enzyme in 1995 in humans and its deficiency in patients with congenit...
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ژورنال
عنوان ژورنال: Case Reports in Ophthalmology
سال: 2012
ISSN: 1663-2699
DOI: 10.1159/000338627