Number of the records: 1
fenylketonúrie
Record number d010661 Date 06.06.2025 Type M - MESH Topical term fenylketonúrie Other term English (Pseudonym) Biopterin Deficiency
English (Pseudonym) Dihydropteridine Reductase Deficiency Disease
English (Pseudonym) Hyperphenylalaninemia, Non-Phenylketonuric
English (Pseudonym) Phenylalanine Hydroxylase Deficiency Disease
Slovak (Pseudonym) deficiencia biopterínu
Slovak (Pseudonym) BH4 deficiencia
Slovak (Pseudonym) deficiencia tetrahydropterínu
Slovak (Pseudonym) DHPR deficiencia
Slovak (Pseudonym) PAH deficiencia
Slovak (Pseudonym) QDPR deficiencia
Slovak (Pseudonym) HPABH4C
Slovak (Pseudonym) PKU, atypická
Slovak (Pseudonym) fenylketonúria
Slovak (Pseudonym) fenylketonúria I
Slovak (Pseudonym) fenylketonúria II
Slovak (Pseudonym) fenylketonúria, typ 2
Slovak (Pseudonym) fenylketonúria druhého typu
Slovak (Pseudonym) fenylketonúria klasická
Slovak (Pseudonym) fenylketonúria atypická
Slovak (Pseudonym) Föllingova choroba
Slovak (Pseudonym) choroba z deficitu dihydropteridín reduktázy
Slovak (Pseudonym) deficit quinoid-dihydropteridín reduktázy
Slovak (Pseudonym) hyperfenylalaninémia nefenylketonurická
Slovak (Pseudonym) choroba z deficitu fenylalanín hydroxylázy
Slovak (Pseudonym) deficit fenylalanín hydroxylázy
Slovak (Pseudonym) deficiencia fenylalanín hydroxylázy
Slovak (Pseudonym) choroba z deficitu fenylalanín hydroxylázy, ťažká
Slovak (Pseudonym) hyperfenylalaninémia
Slovak (Pseudonym) hyperfenylalaninémia spôsobená poruchou metabolizmu biopterínu
Slovak (Pseudonym) hyperfenylalaninémia, BH4-deficientná, C
Slovak (Pseudonym) hyperfenylalaninémia, tetrahydrobiopterín-deficientná, z dôvodu deficiencie DHPR
Slovak (Pseudonym) oligophrenia phenylpyruvica
See also (Later heading) fenylalanínhydroxyláza
(Skutočné meno) dihydropteridínreduktáza
(Skutočné meno) fenylalanínhydroxyláza
(Later heading) moč
UDC C10.228.140.163.100.687C16.320.565.100.766C16.320.565.189.687C18.452.132.100.687C18.452.648.100.766C18.452.648.189.687 Note 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). 
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Number of the records: 1