Abnormalities of tetrahydrobiopterin metabolism

Disorders of tetrahydrobiopterin metabolism and their treatment

Tetrahydrobiopterin (BH4) deficiencies are disorders affecting phenylalanine metabolism in liver and neurotransmitters biosynthesis in brain.

Abnormalities of tetrahydrobiopterin metabolism - MedLink Neurology

Tetrahydrobiopterin (BH4) deficiencies result in insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin, and may present with…

Tetrahydrobiopterin Deficiency - Symptoms, Causes, Treatment

In the past, disorders of tetrahydrobiopterin deficiency were referred to as atypical phenylketonuria or malignant phenylketonuria because physicians believed ...

Disorders of biopterin metabolism - PubMed

Defects in the metabolism or regeneration of tetrahydrobiopterin (BH4) were initially discovered in patients with hyperphenylalaninaemia who had progressive ...

Disorders of Tetrahydrobiopterin Metabolism: Experience from ...

Disorders of tetrahydrobiopterin metabolism represent a rare group of inherited neurotransmitter disorders that manifests mainly in infancy or ...

Tetrahydrobiopterin deficiency - Genetics - MedlinePlus

Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage (deficiency) of a molecule called tetrahydrobiopterin or BH4.

Consensus guideline for the diagnosis and treatment of ...

Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the ...

Disorders of Tetrahydrobiopterin Metabolism and their Treatment

Treatment of BH4 deficiencies consists of BH4 supplementation (2-20 mg / kg per day) or diet to control blood phenylalanine concentration and replacement ...

Disorders of Tetrahydrobiopterin Metabolism - SpringerLink

Tetrahydrobiopterin (BH4) is required as a cofactor in the hydroxylation of phenylalanine, tyrosine and tryptophan. Inborn errors of BH4 metabolism may ...

Disorders of BH4 metabolism and the treatment of patients with 6 ...

The treatment of BH4 deficiency usually consists of replacement with BH4 and the neurotransmitters l-DOPA and 5-HTP. However, choosing the proper amounts of ...

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

A disorder of pterin metabolism characterized by tetrahydrobiopterin (BH4) biosynthesis or recycling deficiencies, leading to central dopamine and serotonin ...

Tetrahydrobiopterin in energy metabolism and metabolic diseases

This article reviews the updated role of BH4 in mitochondrial regulation, energy metabolism and cardiovascular and metabolic diseases.

Disorders of biopterin metabolism - Longo - Wiley Online Library

Five separate genetic conditions affect BH 4 synthesis or regeneration: deficiency of GTP cyclohydrolase I, 6-pyruvoyl tetrahydropterin synthase, sepiapterin ...

Genotypic spectrum underlying tetrahydrobiopterin metabolism defects

To report the genotypes underlying BH4D and the clinical presentation in unrelated Mexican HPA pediatric patients with normal PAH genotypes who attended a ...

Tetrahydrobiopterin deficiency - Wikipedia

Tetrahydrobiopterin deficiency (THBD, BH4D) is a rare metabolic disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid ...

BH4 Deficiency (Tetrahydrobiopterin Deficiency)

BH4 deficiencies are grouped with phenylketonuria (PKU), which is an inborn error of protein metabolism that results from an impaired ability to ...

Metabolism of tetrahydrobiopterin: Its relevance in monoaminergic ...

Metabolism of tetrahydrobiopterin: Its relevance in monoaminergic neurons and neurological disorders · Abstract · Introduction · De Novo ...

Tetrahydrobiopterin deficiency - MedlinePlus

These abnormalities underlie the intellectual disability and other ... Disorders of tetrahydrobiopterin metabolism and their treatment.Curr. Drug ...

Disorders of Tetrahydrobiopterin and Related Biogenic Amines

Tetrahydrobiopterin (BH)deficiencies are disorders affecting phenylalanine homeostasis, and catecholamine and serotonin biosynthesis. The minimum ...

Tetrahydrobiopterin Deficiency - MalaCards

Tetrahydrobiopterin deficiency, also known as THBD or BH4D, is a rare metabolic disorder that leads to increased blood levels of phenylalanine, an amino acid ...