Literature DB >> 1696707

Maternal phenylketonuria.

D H Pullon1, S D Macfarlane, I C Lyon.   

Abstract

A mother with phenylketonuria and hyperphenylalaninaemia of 960 mumol/L with four intellectually deficient offspring is described. In addition a mother with hyperphenylalaninaemia of 2100 mumol/L and two intellectually deficient microcephalic children is described. None of the affected children exhibited elevations of blood phenylalanine. In utero phenylalanine toxicity was considered a factor causing the handicaps.

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Year:  1990        PMID: 1696707

Source DB:  PubMed          Journal:  N Z Med J        ISSN: 0028-8446


  1 in total

1.  Microcephaly in a hyperphenylalaninemic infant leading to the diagnosis of maternal hyperphenylalaninemia.

Authors:  N Gungor; A Tokath; T Coskun; M Ozguc; I Ozalp
Journal:  Eur J Pediatr       Date:  1996-03       Impact factor: 3.183

  1 in total

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