Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.

ABSTRACT: Hyperphenylalaninemia (HPA) is a condition caused by tetrahydrobiopterin (BH₄) and phenylalanine hydroxylase (PAH) deficiencies. It is essential that differential diagnosis be conducted to distinguish these two causes of HPA, because BH₄ deficiency is a more severe disease involving progressive neurologic deterioration. Based on the biological findings, HPA is defined as a plasma phenylalanine level of >2.0 mg/dl (>120 μmol/l). The National Biochemistry Reference Laboratory at the Pasteur Institute of Iran initiated BH₄ deficiency screening tests for the first time during the implementation of a nationwide phenylketonuria (PKU) screening program. Measurement of blood phenylalanine and urinary neopterin and biopterin was conducted by high-performance liquid

SUBMITTER: Khatami S 

PROVIDER: S-EPMC5355377 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature