Dihydroxanthopterinuria in phenylketonuria and lethal hyperphenylalaninemia patients
1977; Elsevier BV; Volume: 78; Issue: 3 Linguagem: Inglês
10.1016/0009-8981(77)90075-4
ISSN1873-3492
AutoresBen Watson, P. Schlensinger, Richard G.H. Cotton,
Tópico(s)Peroxisome Proliferator-Activated Receptors
Resumo7,8-Dihydroxanthopterin in identified in urine from phenylketonuria and lethal hyperphenylalaninemia patients. Because 7,8-dihyroxanthopterin is readily oxidised to xanthopterin, most of the characterisation was performed on xanthopterin. This finding indicates a gross disturbance of tetrahydrobiopterin metabolism in these patients. 7,8-dihydroxanthopterin or a related pterin may play a role in the pathogenesis of neurological symptoms in phenylketonuria and lethal hyperphenylalaninemia.
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