Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency.

Content Provider	Semantic Scholar
Author	Fairbanks, Lynette Dianne Morris, George S. Morgan, Georges Watson, Alan Rees Timms, Peter Singh, Bhag
Copyright Year	1987
Abstract	Developmental retardation was a prominent clinical feature in six infants from three kindreds deficient in the enzyme purine nucleoside phosphorylase (PNP) and was present before development of T cell immunodeficiency. Guanosine triphosphate (GTP) depletion was noted in the erythrocytes of all surviving homozygotes and was of equivalent magnitude to that found in the Lesch-Nyhan syndrome (complete hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency). The similarity between the neurological complications in both disorders indicates that the two major clinical consequences of complete PNP deficiency have differing aetiologies: neurological effects resulting from deficiency of the PNP enzyme products, which are the substrates for HGPRT, leading to functional deficiency of this enzyme. immunodeficiency caused by accumulation of the PNP enzyme substrates, one of which, deoxyguanosine, is toxic to T cells. These studies show the need to consider PNP deficiency (suggested by the finding of hypouricaemia) in patients with neurological dysfunction, as well as in T cell immunodeficiency. They suggest an important role for GTP in normal central nervous system function.
File Format	PDF HTM / HTML
Alternate Webpage(s)	http://adc.bmj.com/content/archdischild/62/4/385.full.pdf
PubMed reference number	2439024v1
Volume Number	62
Issue Number	4
Journal	Archives of disease in childhood
Language	English
Access Restriction	Open
Subject Keyword	CNS disorder Chronic Lymphocytic Leukemia Cyclic GMP Erythrocytes Guanine Guanosine Triphosphate Homozygote Hypouricemia Hypoxanthine Phosphoribosyltransferase Immunologic Deficiency Syndromes Lesch-Nyhan Syndrome Leukemia, B-Cell Nervous System Physiological Phenomena Patients Phosphorylases Purine Nucleosides Purines
Content Type	Text
Resource Type	Article