Disialotransferrin developmental deficiency syndrome.
Seven mentally deficient children and adolescents (three pairs of siblings and one singleton) were studied. A peculiar external appearance, a characteristic neurohepatosubcutaneous tissue impairment syndrome and, as a biological marker, an abnormal sialic acid transferrin pattern were characteristic features. All seven seemed odd from birth and prone to acute cerebral dysfunction during catabolic states. Abnormal lower neurone, cerebellar, and retinal functions dominated from later childhood. The disialotransferrin pattern found in serum and cerebrospinal fluid is thought to be the biological marker of a newly discovered inborn error of glycoprotein metabolism with autosomal recessive inheritance.
Kristiansson
B
B
Department of Pediatrics, Ostra Hospital, Gothenburg University, Sweden.
Andersson
M
M
Tonnby
B
B
Hagberg
B
B
D000293:Adolescent; D000328:Adult; D001212:Asialoglycoproteins; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000150:complications / Q000378:metabolism*; D005149:Facial Expression; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000378:metabolism*; D007525:Isoelectric Focusing; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000378:metabolism*; D009422:Nervous System Diseases / Q000150:complications / Q000378:metabolism; D012795:Sialoglycoproteins / Q000032:analysis / Q000097:blood; D013577:Syndrome; D014168:Transferrin / Q000031:analogs & derivatives* / Q000032:analysis
D001212:Asialoglycoproteins; D012795:Sialoglycoproteins; D014168:Transferrin; C017031:asialotransferrins; C519691:disialotransferrin