Tetrahydrobiopterin deficiencies: Lesson from clinical experience.

ABSTRACT:

Objectives

The present study describes clinical, biochemical, molecular genetic data, current treatment strategies and follow-up in nine patients with tetrahydrobiopterin (BH4) deficiency due to various inherited genetic defects.

Methods

We analyzed clinical, biochemical, and molecular data of nine patients with suspected BH4 deficiency. All patients were diagnosed at Ege University Faculty of Medicine in Izmir, Turkey and comprised data collected from 2006 to 2019. The diagnostic laboratory examinations included blood phenylalanine and urinary or plasma pterins, dihydropteridine reductase (DHPR) enzyme activity measurement in dried blood spots, folic acid and monoamine neurotransmitter metabolites in cerebrospinal fluid, as well as DNA sequencing.

Results

Among the n

SUBMITTER: Bozaci AE 

PROVIDER: S-EPMC8100404 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature