A case of dihydropteridine reductase deficiency

Pteridines

Volumn 11, Issue 4, 2000, Pages 126-128

  Furujo, M ^a   Ichiba, Y ^a   Sintaku, H ^a   Asada, M ^a  

^a National Hospital Organization   (Japan)

Author keywords

5 Hydroxyindole acetic acid (5HIAA); 5 Hydroxytryptophan (5 HTP); Dihydropteridine reductase (DHPR); Homovanillic acid (HVA); Hyperprolactinemia; Neurotransmitter precursor; Phenylketonuria (PKU); Quinonoid dihydrobiopterin (qBH2); Tetrahydrobiopterin(BH4) loading test

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; 5 HYDROXYTRYPTOPHAN; BIOPTERIN; CARBIDOPA PLUS LEVODOPA; DIHYDROPTERIDINE REDUCTASE; HOMOVANILLIC ACID; PHENYLALANINE; SAPROPTERIN; TETRAHYDROBIOPTERIN; TRYPTOPHAN; TYROSINE;

ARTICLE; CASE REPORT; CONTROLLED STUDY; DOSE RESPONSE; ENZYME DEFICIENCY; HUMAN; HYDROXYLATION; HYPERPHENYLALANINEMIA; INFANT; MALE; NEUROLOGIC DISEASE; PHENYLKETONURIA; PRIORITY JOURNAL;

EID: 0034447775     PISSN: 09334807     EISSN: 21954720     Source Type: Journal    
DOI: 10.1515/pteridines.2000.11.4.126     Document Type: Article

References (3)

1. Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment
2. Hyperphenylalaninemia due to dihydropteridine reductase deficiency: Diagnosis by enzyme assays on dried blood spots
3. Hyerprolactinemia, a tool in treatment control of tetrahydrobiopterin deficiency: Endocrine studies in an affected girl