A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations.
A boy with an unspecific symptomatology consisting of mental retardation, strabismus, hypotonia and mild ataxia was diagnosed with a congenital disorder of glycosylation (CDG). Neither cerebellar atrophy nor dysmorphic features were present. The serum transferrin band pattern obtained by isoelectric focusing(IEF) showed a strongly elevated disialotransferrin band together with only slightly elevated asialotransferrin, thus a type I pattern. This is a new CDG classified CDG-x since CDG-la, -b, -c, -d and -e were excluded. Quantitative differences to the type 1 pattern of a CDG-la patient with a moderate to severe course were confirmed by densitometric evaluation of the gels and by SDS gel electrophoresis. Liver biopsy showed lysosomal inclusions suggesting a pre-Golgi defect. This patient's case supports the approach to include isoelectric focusing of serum transferrin in the diagnostic work-up of patients with unexplained symptoms.
Assmann
B
B
University Children's Hospital, Division of Metabolic and Endocrine Diseases, Heidelberg, Germany. Birgit_Assmann@med.uni-heidelberg.de
Hackler
R
R
Peters
V
V
Schaefer
J R
JR
Arndt
T
T
Mayatepek
E
E
Jaeken
J
J
Hoffmann
G F
GF
D001212:Asialoglycoproteins / Q000097:blood; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D003241:Consanguinity; D003937:Diagnosis, Differential; D006801:Humans; D008607:Intellectual Disability / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D007525:Isoelectric Focusing; D008297:Male; D011596:Psychomotor Disorders / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D014168:Transferrin / Q000031:analogs & derivatives* / Q000378:metabolism
D001212:Asialoglycoproteins; D014168:Transferrin; C017031:asialotransferrins