Disorders 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.

Disorders of biopterin metabolism - PubMed

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

Tetrahydrobiopterin Deficiency - Symptoms, Causes, Treatment

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

Abnormalities of tetrahydrobiopterin metabolism - MedLink Neurology

Tetrahydrobiopterin (BH 4 ) deficiencies, a group of rare inherited neurologic diseases with monoamine neurotransmitter deficiency, result in insufficient ...

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 ... Disorders of tetrahydrobiopterin metabolism and ...

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 in energy metabolism and metabolic diseases

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

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

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

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 ...

Disorders of Tetrahydrobiopterin and Related Biogenic Amines

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

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 ...

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 ...

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 ...

Tetrahydrobiopterin deficiency - Wikipedia

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

Metabolism of tetrahydrobiopterin: Its relevance in monoaminergic ...

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

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 ...

BH4 Deficiency (Tetrahydrobiopterin Deficiency) Clinical Presentation

Tetrahydrobiopterin (BH4) deficiencies are disorders that affect phenylalanine (Phe or F) homeostasis, as well as brain biosynthesis of ...

Tetrahydrobiopterin: Beyond Its Traditional Role as a Cofactor - MDPI

BH4 deficiencies are a group of rare inherited neurological disorders caused by mutations in genes encoding enzymes involved in BH4 synthesis (Figure 1). The ...

Tetrahydrobiopterin deficiency - MedlinePlus

Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage (deficiency) ... Disorders of biopterin metabolism. J Inherit Metab Dis. 2009Jun;32( ...