Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Orphanet J Rare Dis
; 15(1): 126, 2020 05 26.
Article
en En
| MEDLINE
| ID: mdl-32456656
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 patient care. Representatives of the International Working Group on Neurotransmitter related Disorders (iNTD) developed the guidelines according to the SIGN (Scottish Intercollegiate Guidelines Network) methodology by evaluating all available evidence for the diagnosis and treatment of BH4 deficiencies.CONCLUSION:
Although the total body of evidence in the literature was mainly rated as low or very low, these consensus guidelines will help to harmonize clinical practice and to standardize and improve care for BH4 deficient patients.Palabras clave
6-pyruvoyltetrahydropterin synthase deficiency; BH4; Consensus guidelines; Dihydropteridine reductase deficiency; Guanosine triphosphate cyclohydrolase deficiency; Hyperphenylalaninemia; Neurotransmitter; SIGN; Sepiapterin reductase deficiency, pterin-4-alpha-carbinolamine dehydratase deficiency; Tetrahydrobiopterin deficiency; iNTD
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fenilcetonurias
/
Distonía
/
Errores Innatos del Metabolismo
Tipo de estudio:
Diagnostic_studies
/
Guideline
Límite:
Humans
Idioma:
En
Revista:
Orphanet J Rare Dis
Asunto de la revista:
MEDICINA
Año:
2020
Tipo del documento:
Article
País de afiliación:
Alemania