Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

• Main Authors: Pongsathorn Chaiyasap (Author), Chupong Ittiwut (Author), Chalurmpon Srichomthong (Author), Apiruk Sangsin (Author), Kanya Suphapeetiporn (Author), Vorasuk Shotelersuk (Author)
• Format: Book
• Published: BMC, 2017-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency caused by alterations in genes involved in tetrahydrobiopterin (BH4) biosynthesis pathway. Dietary restriction of...