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

doi:10.1089/gte.2006.0520

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

Pediatrics

Research output: Contribution to journal › Article › peer-review

10 Scopus citations

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 language	English (US)
Pages (from-to)	174-178
Number of pages	5
Journal	Genetic Testing
Volume	11
Issue number	2
DOIs	https://doi.org/10.1089/gte.2006.0520
State	Published - Jun 2007

ASJC Scopus subject areas

Genetics(clinical)

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10.1089/gte.2006.0520

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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",

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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.

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

Abstract

ASJC Scopus subject areas

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