Related Experiment Video

Updated: Jul 14, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

Galactosemia screening of newborns in Massachusetts

V E Shih, H I Levy, V Karolkewicz

    The New England Journal of Medicine
    |April 8, 1971
    PubMed
    Abstract

    No abstract available in PubMed .

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    Glucose Transporters

    Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
    Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
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    Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...

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