Skip to main

Medical Subject Headings (thesaurus)

Search from vocabulary

mapear
anotar
descargar

Concept information

Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Phenylketonurias
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Phenylketonurias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Phenylketonurias
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Phenylketonurias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Phenylketonurias
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Phenylketonurias

Término preferido

Phenylketonurias  

Notice: Undefined index: in /var/www/html/model/Concept.php on line 545

Tipo

  • mesh:Descriptor

Definición

  • A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).

Concepto genérico

Conceptos específicos

Conceptos relacionados

Etiquetas alternativas

  • Phenylketonuria

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-FL5XWKZ7-D

Descargue este concepto:

RDF/XML TURTLE JSON-LD Creado 1/1/99, última modificación 24/5/19