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

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 phenylalanine is considered to be the main treatment of PKU to prevent irreversible intellectual disability. However, the same dietary intervention in BH4 deficiency patients is not as effective, as BH4 is also a cofactor in many neurotransmitter syntheses.

Method

We utilized next generation sequencing (NGS) technique to investigate four unrelated Thai patients with hyperphenylalaninemia.

Result

We successfully identified all eight mutant alleles in PKU or BH4-deficiency associated

SUBMITTER: Chaiyasap P 

PROVIDER: S-EPMC5602921 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature