Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: Influence of different phenylalanine hydroxylase mutations

Journal of Inherited Metabolic Disease

Volumn 21, Issue 3, 1998, Pages 236-239

  Spada, M ^a,e   Dianzani, I ^a   Bonetti, G ^b   Biondi, A ^b   Leone, L ^b   Giannattasio, S ^c   Ponzone, A ^a,d  

^a UNIVERSITY OF TURIN   (Italy)

^b REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

^c CNR   (Italy)

^d UNIVERSITY OF MESSINA   (Italy)

^e Clinica Pediatrica   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; TYROSINE;

BLOOD LEVEL; CONFERENCE PAPER; DIAGNOSTIC ERROR; DIAGNOSTIC VALUE; DISEASE SEVERITY; GENE MUTATION; HETEROZYGOTE; HUMAN; METABOLISM; PHENYLKETONURIA;

EID: 0031926993     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005355802928     Document Type: Conference Paper

References (6)

1. Dianzani I, Giannattasio S, de Sanctis L et al (1995) Characterization of phenylketonuria alleles in the Italian population. Eur J Hum Genet 3: 294-302.
2. Gibaldi M, Perrier D (1975) Pharmacokinetics. New York: Marcel Dekker.
3. Knappskog PM, Eiken HG, Martinez A, Bruland O, Apold J, Flatmark T (1996) PKU mutation (D143G) associated with an apparent high residual enzyme activity: expression of a kinetic variant form of phenylalanine hydroxylase in three different systems. Hum Mutat 8: 236-246.
4. Lehmann D (1989) Progress in the identification of the heterozygote in phenylketonuria. J Pediatr 114: 915-924.
5. Scriver RC, Kaufmann 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, 7th edn. New York: McGraw-Hill, 1015-1076.
6. Svensson E, Iselius L, Hagenfeldt L (1994) Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes. J Inher Metab Dis 17: 215-222.