Abstract
6-Pyruvoyl-tetrahydropterin synthase deficiency: The first Tunisian case
Highlights
Tetrahydrobiopterin BH4 acts as a cofactor for phenylalanine hydroxylase as well as for tyrosine hydroxylase and tryptophan hydroxylase, which are required for the synthesis of dopamine and serotonin, respectively [1]
Pyruvoyl-tetrahydropterin synthase (PTS) deficiency is a major cause of BH4-deficient hyperphenylalaninemia (HPAP) [3]
The biological profile is characterized by high blood phenylalanine concentration, low urinary total biopterin and high neopterin:biopterin ratio, as well as decreased neurotransmitter metabolites homovanillic acid and 5-hydroxyindoleacetic in the cerebrospinal fluid [5]
Summary
Fahmi N1,3*, Ichraf K2, Haifa S1, Neji T3, Ilhem TBY2 and Moncef F1 1Laboratory of Biochemistry, School of Medicine, Rabta Hospital, Jebbari, 1007 Tunis, Tunisia 2Department of Child and Adolescent Neurology, School of Medicine, Mongi Ben Hmida Institute of Neurology, 1007 Tunis, Tunisia 3Department of Pediatrics and Research laboratory LR12SP02, School of Medicine, Rabta Hospital, Jebbari, 1007 Tunis, Tunisia
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