title: Underdiagnosis of mild congenital disorders of glycosylation type Ia.
abstract: Congenital disorders of glycosylation-Ia are the most frequent type of congenital disorders of glycosylation. This condition affects the nervous system as well as other organs. The estimated incidence of congenital disorders of glycosylation-Ia is higher than the number of identified cases, therefore underdiagnosis of this heterogeneous disorder is probable. Neurologic and biologic signs are hallmarks for the identification of patients with congenital disorders of glycosylation-Ia. This report describes two children with congenital disorders of glycosylation-Ia syndrome confirmed by phosphomannomutase gene mutations with normal development and absence of biologic anomalies such as elevated transaminases and altered hemostasis. In conclusion, congenital disorders of glycosylation should be considered in cases of unexplained behavioral symptoms such as hyperactivity and concentration difficulties and mild neurologic signs. Intellectual retardation is often overestimated because of dysarthria and motor difficulties. Psychomotor reeducation might improve quality of life.
authors.affiliation: Department of Pediatrics and Department of Genetics, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.
authors.forename: Irina
authors.initials: I
authors.lastname: Giurgea
authors.forename: Anne
authors.initials: A
authors.lastname: Michel
authors.forename: Martine
authors.initials: M
authors.lastname: Le Merrer
authors.forename: Nathalie
authors.initials: N
authors.lastname: Seta
authors.forename: Pascale
authors.initials: P
authors.lastname: de Lonlay
mesh_terms: D002675:Child, Preschool; D005260:Female; D006031:Glycosylation; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000209:etiology*; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency* / Q000235:genetics
chemical_list: D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase