Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin

Lin Wang, Sankar Surendran, Kimberlee Michals-Matalon, Gita Bhatia, Susan Tanskley, Richard Koch, James Grady, Stephen K. Tyring, Raymond C. Stevens, Flemming Guttler, Reuben Matalon

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Tetrahydrobiopterin (BH4) is a co-factor that enhances the activity of other enzymes, and this co-factor level is found to be affected in phenylketonuria (PKU), an amino acid metabolism disorder. The present study was aimed at understanding the effect of BH4 on mutations in the regulatory domain of phenylalanine hydroxylase (PAH). Among 14 patients, 5 patients were classical PKU, 3 were atypical PKU, and 6 were mild PKU. All of these patients had at least one mutation in the regulatory domain. Patients were given 10 mg/kg BH4, and the response of blood phenylalanine (Phe) levels was monitored following treatment. The level of blood Phe decreased after BH4 treatment in all of the patients. These studies suggest that mutations in the regulatory domain also responded to BH4 even if the patient had classical PKU.

Original languageEnglish (US)
Pages (from-to)174-178
Number of pages5
JournalGenetic Testing
Volume11
Issue number2
DOIs
StatePublished - Jun 2007

Fingerprint

Phenylalanine Hydroxylase
Phenylketonurias
Mutation
Phenylalanine
sapropterin
Amino Acids
Enzymes
Therapeutics

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin. / Wang, Lin; Surendran, Sankar; Michals-Matalon, Kimberlee; Bhatia, Gita; Tanskley, Susan; Koch, Richard; Grady, James; Tyring, Stephen K.; Stevens, Raymond C.; Guttler, Flemming; Matalon, Reuben.

In: Genetic Testing, Vol. 11, No. 2, 06.2007, p. 174-178.

Research output: Contribution to journalArticle

Wang, L, Surendran, S, Michals-Matalon, K, Bhatia, G, Tanskley, S, Koch, R, Grady, J, Tyring, SK, Stevens, RC, Guttler, F & Matalon, R 2007, 'Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin', Genetic Testing, vol. 11, no. 2, pp. 174-178. https://doi.org/10.1089/gte.2006.0520
Wang L, Surendran S, Michals-Matalon K, Bhatia G, Tanskley S, Koch R et al. Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin. Genetic Testing. 2007 Jun;11(2):174-178. https://doi.org/10.1089/gte.2006.0520
Wang, Lin ; Surendran, Sankar ; Michals-Matalon, Kimberlee ; Bhatia, Gita ; Tanskley, Susan ; Koch, Richard ; Grady, James ; Tyring, Stephen K. ; Stevens, Raymond C. ; Guttler, Flemming ; Matalon, Reuben. / Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin. In: Genetic Testing. 2007 ; Vol. 11, No. 2. pp. 174-178.
@article{4829e5ac46864e1098119cdee2b857b7,
title = "Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin",
abstract = "Tetrahydrobiopterin (BH4) is a co-factor that enhances the activity of other enzymes, and this co-factor level is found to be affected in phenylketonuria (PKU), an amino acid metabolism disorder. The present study was aimed at understanding the effect of BH4 on mutations in the regulatory domain of phenylalanine hydroxylase (PAH). Among 14 patients, 5 patients were classical PKU, 3 were atypical PKU, and 6 were mild PKU. All of these patients had at least one mutation in the regulatory domain. Patients were given 10 mg/kg BH4, and the response of blood phenylalanine (Phe) levels was monitored following treatment. The level of blood Phe decreased after BH4 treatment in all of the patients. These studies suggest that mutations in the regulatory domain also responded to BH4 even if the patient had classical PKU.",
author = "Lin Wang and Sankar Surendran and Kimberlee Michals-Matalon and Gita Bhatia and Susan Tanskley and Richard Koch and James Grady and Tyring, {Stephen K.} and Stevens, {Raymond C.} and Flemming Guttler and Reuben Matalon",
year = "2007",
month = "6",
doi = "10.1089/gte.2006.0520",
language = "English (US)",
volume = "11",
pages = "174--178",
journal = "Genetic Testing and Molecular Biomarkers",
issn = "1945-0265",
publisher = "Mary Ann Liebert Inc.",
number = "2",

}

TY - JOUR

T1 - Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin

AU - Wang, Lin

AU - Surendran, Sankar

AU - Michals-Matalon, Kimberlee

AU - Bhatia, Gita

AU - Tanskley, Susan

AU - Koch, Richard

AU - Grady, James

AU - Tyring, Stephen K.

AU - Stevens, Raymond C.

AU - Guttler, Flemming

AU - Matalon, Reuben

PY - 2007/6

Y1 - 2007/6

N2 - Tetrahydrobiopterin (BH4) is a co-factor that enhances the activity of other enzymes, and this co-factor level is found to be affected in phenylketonuria (PKU), an amino acid metabolism disorder. The present study was aimed at understanding the effect of BH4 on mutations in the regulatory domain of phenylalanine hydroxylase (PAH). Among 14 patients, 5 patients were classical PKU, 3 were atypical PKU, and 6 were mild PKU. All of these patients had at least one mutation in the regulatory domain. Patients were given 10 mg/kg BH4, and the response of blood phenylalanine (Phe) levels was monitored following treatment. The level of blood Phe decreased after BH4 treatment in all of the patients. These studies suggest that mutations in the regulatory domain also responded to BH4 even if the patient had classical PKU.

AB - Tetrahydrobiopterin (BH4) is a co-factor that enhances the activity of other enzymes, and this co-factor level is found to be affected in phenylketonuria (PKU), an amino acid metabolism disorder. The present study was aimed at understanding the effect of BH4 on mutations in the regulatory domain of phenylalanine hydroxylase (PAH). Among 14 patients, 5 patients were classical PKU, 3 were atypical PKU, and 6 were mild PKU. All of these patients had at least one mutation in the regulatory domain. Patients were given 10 mg/kg BH4, and the response of blood phenylalanine (Phe) levels was monitored following treatment. The level of blood Phe decreased after BH4 treatment in all of the patients. These studies suggest that mutations in the regulatory domain also responded to BH4 even if the patient had classical PKU.

UR - http://www.scopus.com/inward/record.url?scp=34447284479&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=34447284479&partnerID=8YFLogxK

U2 - 10.1089/gte.2006.0520

DO - 10.1089/gte.2006.0520

M3 - Article

C2 - 17627389

AN - SCOPUS:34447284479

VL - 11

SP - 174

EP - 178

JO - Genetic Testing and Molecular Biomarkers

JF - Genetic Testing and Molecular Biomarkers

SN - 1945-0265

IS - 2

ER -