Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: Effect of oral phenylalanine loading

Journal of Inherited Metabolic Disease

Volumn 22, Issue 3, 1999, Pages 216-220

  Blau, N ^a   Thony B ^a   Renneberg, A ^b   Penzien, J M ^c   Hyland, K ^d,e   Hoffmann, G F ^f  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b Children s Hospital Königsborn   (Germany)

^c Children's Hospital   (Germany)

^d BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^e UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^f University Children's Hospital   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BIOPTERIN; DIHYDROPTERIDINE REDUCTASE; DYSPROPTERIN; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; NEOPTERIN; NEUROTRANSMITTER; PHENYLALANINE; SYNTHETASE; TYROSINE;

BASAL GANGLION; BLOOD LEVEL; BRAIN BLOOD VESSEL; BRAIN CALCIFICATION; BRAIN CORTEX; CASE REPORT; CELL LOSS; CLINICAL FEATURE; CONFERENCE PAPER; CONVULSION; DISEASE COURSE; DYSPHAGIA; DYSTONIA; ENZYME DEFICIENCY; HUMAN; HYPERPHENYLALANINEMIA; HYPERSALIVATION; LOADING TEST; MALE; MENTAL DEFICIENCY; MOTOR DYSFUNCTION; NERVE CELL; NEWBORN; NEWBORN SCREENING; ORAL DRUG ADMINISTRATION; SCHOOL CHILD; SYMPTOM; THALAMUS; WHITE MATTER;

ADMINISTRATION, ORAL; BIOPTERIN; CHILD; CHILD, PRESCHOOL; HUMANS; MALE; PHENYLALANINE; PHENYLKETONURIAS; TYROSINE;

EID: 0345518030     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005584627797     Document Type: Conference Paper

References (7)

1. Blau N, Thöny B, Renneberg A, Arnold LA, Hyland K (1998) Dihydropteridine reductase deficiency localized to the central nervous system. J Inher Metab Dis 21: 433-434.
2. Blau N, Thöny B, Cotton RGH, Hyland K (2000) Disorders of tetrahydrobiopterin and related biogenic amines. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B, eds The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, in press.
3. Curtius HC, Blau N, Kuster T (1991) Pterins. In: Hommes FA, ed. Techniques in Diagnostic Human Biochemical Genetics. New York: Wiley-Liss, 377-396.
4. Hyland K, Biaggioni I, Elpeleg ON, Nyggard TG, Gibson KM (1996) Disorders of neuro-transmitter metabolism. In: Blau N, Duran M, Blaskovics M, eds. Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. London: Chapman & Hall, 79-98.
5. Hyland K, Fryburg JS, Wilson WG, et al (1997) Oral phenylalanine loading in dopa-responsive dystonia - a possible diagnostic test. Neurology 48: 1290-1297.
6. Ponzone A, Guardamagna O, Dianzani I, et al (1993a) Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment. Pediatr Res 33: 125-128.
7. Ponzone A, Guardamagna O, Spada M, et al (1993b) Differential diagnosis of hyperphenylalaninemia by a combined phenylalanine-tetrahydrobiopterin loading test. Eur J Pediatr 152: 655-661