Disialotransferrin developmental deficiency syndrome.
Open Access
- 1 January 1989
- journal article
- research article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 64 (1), 71-76
- https://doi.org/10.1136/adc.64.1.71
Abstract
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.Keywords
This publication has 9 references indexed in Scilit:
- AN APPARENT HOMOZYGOUS X-LINKED DISORDER WITH CARBOHYDRATE-DEFICIENT SERUM GLYCOPROTEINSThe Lancet, 1987
- Carbohydrate Composition of Serum Transferrin in Alcoholic PatientsAlcohol: Clinical and Experimental Research, 1986
- Biochemical markers of chronic alcoholismAlcohol, 1985
- Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndromeClinica Chimica Acta; International Journal of Clinical Chemistry, 1984
- Isoelectric focusing followed by silver staining. A suitable method for routine investigation of cerebrospinal fluid proteins.1984
- Maternal ethanol consumption and synaptic membrane glycoproteins in offspringJournal of Neuroscience Research, 1982
- Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90Pediatric Research, 1980
- Quantitative estimation of abnormal microheterogeneity of serum transferrin in alcoholicsPharmacology Biochemistry and Behavior, 1980
- Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodiesAnalytical Biochemistry, 1966