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Issues for consideration in dihydropteridine reductase (DHPR) deficiency: a variant form of hyperphenylalaniaemia

Record type: Article

An adult male with intellectual disabilities demonstrated deterioration in many skills over a number of years and an increase in his temper outbursts was also reported. At 18 years of age, he had been diagnosed as having dihydropteridine reductase (DHPR) deficiency, but treatment had proved unsuccessful in the short term and was discontinued. Dihydropteridine reductase deficiency is a recessively inherited disorder of the amino acid metabolism resulting in a deficiency of tetrahydrobiopterin, an essential cofactor for phenylalanine, tyrosine and tryptophan metabolism. This causes a severe deficiency of neurotransmitters in the brain. Following further neurological examinations, treatment for the subject was recommenced at the age of 30 years. Few reports of late-diagnosis DHPR have been documented. This paper outlines one case report of DHPR, highlighting the importance of diagnosis, medical treatment and nursing care.

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Citation

Pogson, D. (1997) Issues for consideration in dihydropteridine reductase (DHPR) deficiency: a variant form of hyperphenylalaniaemia Journal of Intellectual Disability Research, 41, (3), pp. 208-214.

More information

Published date: June 1997

Identifiers

Local EPrints ID: 66920
URI: http://eprints.soton.ac.uk/id/eprint/66920
ISSN: 0964-2633
PURE UUID: cadd98e8-aab5-44f2-b375-4fdd537153e7

Catalogue record

Date deposited: 04 Aug 2009
Last modified: 19 Jul 2017 00:21

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