Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.
Sign Up to like & getrecommendations! Published in 2020 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2020.11.004
Abstract: BACKGROUND Pyruvoyl Tetrahydropterin Synthase (PTPS) Deficiency is the most common form of BH4 deficiency resulting in hyperphenylalaninemia. It can have variable clinical severity and there is limited information on the clinical presentation, natural history and… read more here.
Keywords: prolactin; age; pyruvoyl tetrahydropterin; patients ptps ... See more keywords
Identification and molecular analysis of 11 cases of the PTS gene variants associated with tetrahydrobiopterin deficiency
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.919209
Abstract: Background: Tetrahydrobiopterin deficiency (BH4D) is a rare autosomal recessive amino acid metabolic disease that belongs to a kind of hyperphenylalaninemia (HPA), and 6-pyruvyltetrahydrotrexate synthase (PTPS) deficiency is the most common type of BH4D. This study… read more here.
Keywords: gene variants; ptps deficiency; tetrahydrobiopterin deficiency; analysis ... See more keywords