Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH₄) deficiencies.

ABSTRACT:

Background

Tetrahydrobiopterin (BH₄) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH₄ biosynthesis or recycling. Hyperphenylalaninemia (HPA) is the first diagnostic hallmark for most BH₄ deficiencies, apart from autosomal dominant guanosine triphosphate cyclohydrolase I deficiency and sepiapterin reductase deficiency. Early supplementation of neurotransmitter precursors and where appropriate, treatment of HPA results in significant improvement of motor and cognitive function. Management approaches differ across the world and therefore these guidelines have been developed aiming to harmonize and optimize pati

SUBMITTER: Opladen T 

PROVIDER: S-EPMC7251883 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature