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Disialotransferrin developmental deficiency syndrome.

Authors
Type
Published Article
Journal
Archives of Disease in Childhood
1468-2044
Publisher
BMJ
Publication Date
Volume
64
Issue
1
Pages
71–76
Identifiers
PMID: 2466439
Source
Medline
License
Unknown

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.

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