J. Sarles, Nicole Maurin, Françoise Giraud
Abstract
Phenylalanine, the direct precursor of tyrosine, is rarely increased in tyrosinemia I. We report on a case of tyrosinemia type I diagnosed through neonatal hyperphenylalaninemia. This case report points out the need for a biological evaluation of the hepatic function in cases of neonatal hyperphenylalaninemia.
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Phenylalanine, the direct precursor of tyrosine, is rarely increased in tyrosinemia I. We report on a case of tyrosinemia type I diagnosed through neonatal hyperphenylalaninemia. This case report points out the need for a biological evaluation of the hepatic function in cases of neonatal hyperphenylalaninemia.
Key concepts: Hyperphenylalaninemia, Tyrosinemia, Medicine, Phenylalanine, Tyrosine, Pediatrics, Chemistry, Biochemistry