Untreated classical galactosemia patient with mild phenotype

B. Panis; J.A. Bakker; J.P.J.E. Sels; L.J. Spaapen; L.J. van Loon; M.E. Rubio-Gozalbo

doi:10.1016/j.ymgme.2006.03.002

Untreated classical galactosemia patient with mild phenotype

B. Panis, J.A. Bakker, J.P.J.E. Sels, L.J. Spaapen, L.J. van Loon, M.E. Rubio-Gozalbo^*

^*Corresponding author for this work

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

Abstract

Despite life-long galactose restriction, long-term complications generally occur in classical galactosemia. We report an adult male with classical galactosemia (Q188R homozygosity, severely reduced erythrocyte galactose-1-phosphate uridyltransferase activity) who has a surprisingly mild phenotype despite genotype and enzyme activity associated with severe phenotype. Moreover he has a normal galactose intake from the age of 3 years. This case is probably an example of the important role of yet unknown susceptibility and or modifier genes.

Original language	English
Pages (from-to)	277-279
Journal	Molecular Genetics and Metabolism
Volume	89
Issue number	3
DOIs	https://doi.org/10.1016/j.ymgme.2006.03.002
Publication status	Published - 1 Jan 2006

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10.1016/j.ymgme.2006.03.002

Cite this

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title = "Untreated classical galactosemia patient with mild phenotype",

abstract = "Despite life-long galactose restriction, long-term complications generally occur in classical galactosemia. We report an adult male with classical galactosemia (Q188R homozygosity, severely reduced erythrocyte galactose-1-phosphate uridyltransferase activity) who has a surprisingly mild phenotype despite genotype and enzyme activity associated with severe phenotype. Moreover he has a normal galactose intake from the age of 3 years. This case is probably an example of the important role of yet unknown susceptibility and or modifier genes.",

author = "B. Panis and J.A. Bakker and J.P.J.E. Sels and L.J. Spaapen and {van Loon}, L.J. and M.E. Rubio-Gozalbo",

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AU - Panis, B.

AU - Bakker, J.A.

AU - Sels, J.P.J.E.

AU - Spaapen, L.J.

AU - van Loon, L.J.

AU - Rubio-Gozalbo, M.E.

PY - 2006/1/1

Y1 - 2006/1/1

N2 - Despite life-long galactose restriction, long-term complications generally occur in classical galactosemia. We report an adult male with classical galactosemia (Q188R homozygosity, severely reduced erythrocyte galactose-1-phosphate uridyltransferase activity) who has a surprisingly mild phenotype despite genotype and enzyme activity associated with severe phenotype. Moreover he has a normal galactose intake from the age of 3 years. This case is probably an example of the important role of yet unknown susceptibility and or modifier genes.

AB - Despite life-long galactose restriction, long-term complications generally occur in classical galactosemia. We report an adult male with classical galactosemia (Q188R homozygosity, severely reduced erythrocyte galactose-1-phosphate uridyltransferase activity) who has a surprisingly mild phenotype despite genotype and enzyme activity associated with severe phenotype. Moreover he has a normal galactose intake from the age of 3 years. This case is probably an example of the important role of yet unknown susceptibility and or modifier genes.

U2 - 10.1016/j.ymgme.2006.03.002

DO - 10.1016/j.ymgme.2006.03.002

M3 - Article

C2 - 16621642

SN - 1096-7192

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JO - Molecular Genetics and Metabolism

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