Dihydropteridine reductase deficiency localized to the central nervous system

Journal of Inherited Metabolic Disease

Volumn 21, Issue 4, 1998, Pages 433-434

  Blau, N ^a   Thony B ^a   Renneberg, A ^b   Arnold, L A ^c   Hyland, K ^c,d  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b Children s Hospital Königsborn   (Germany)

^c BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^d UNIVERSITY OF TEXAS AT DALLAS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPTERIDINE REDUCTASE; TETRAHYDROBIOPTERIN;

ARTICLE; CASE REPORT; CENTRAL NERVOUS SYSTEM; CHILD; ENZYME DEFICIENCY; HUMAN; MALE; SCHOOL CHILD;

BIOPTERIN; CENTRAL NERVOUS SYSTEM; CHILD; HOMOVANILLIC ACID; HUMANS; HYDROXYINDOLEACETIC ACID; MALE; PHENYLKETONURIAS;

EID: 7144223640     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005327313348     Document Type: Article

References (6)

1. Blau N, Heizmann CW, Sperl W, et al (1992) Atypical (mild) forms of dihydropteridine reductase deficiency - neurochemical evaluation and mutation detection. Pediatr Res 32: 726-730.
2. Blau N, Barnes I, Dhondt JL (1996) International database of tetrahydrobiopterin deficiencies. J Inher Metab Dis 19: 8-14.
3. Howells D, Smith I, Leonard J, Hyland K (1986) Tetrahydrobiopterin in dihydropteridine reductase deficiency. N Engl J Med 314: 520-521.
4. Hyland K, Howells DW (1988) Analysis and clinical significance of pterins. J Chromatogr 429: 95-121.
5. Hyland K, Howells DW, Collins JE, Smith I (1989) Methotrexate and deficiencies of dihydropteridine reductase and phenylalanine hydroxylase: effects on CSF biopterins in children. In Levine RA, Milstien S, Kuhn DM, Curtius HC, eds. Pterins and Biogenic Amines in Neuropsychiatry, Pediatrics and Immunology. Grosse Pointe: Lakeshore Publishing, 335-343.
6. Scriver CR, Kaufman S, Eisensmith RC, Woo SLC (1995) The hyperphenylalaninemias. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7 edn, vol. 1. New York: McGraw-Hill, 1015-1075.