MENTAL RETARDATION IN A FAMILY WITH PHENYLKETONURIA AND MILD HYPERPH ENYLALANINEMIA
1969; American Academy of Pediatrics; Volume: 44; Issue: 5 Linguagem: Inglês
10.1542/peds.44.5.655
ISSN1098-4275
AutoresB. E. Cohen, À. Szeinberg, Wifred Berman, Yermiahu Aviad, Moshe Crispin, N Hirshorn, Rachel Golan,
Tópico(s)Peroxisome Proliferator-Activated Receptors
ResumoA highly inbred family with five mentally retarded persons is described. Two sibs presented typical characteristics of phenylketonuria, while one mentally retarded sib did not show any biochemical abnormality. The mother and maternal uncle had mild hyperphenylalaninemia. It is pointed out in the discussion that, while the mental retardation (at least in some of these subjects) may be independent of disturbances of phenylalanine metabolism, it is possible also to explain all the findings in the family on a unified basis, involving a variant hyperphenylalaninemia with tolerance increasing with age and "maternal phenylketonuia."
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