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Glucose Transporters01:27

Glucose Transporters

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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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Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Updated: Jul 27, 2025

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Gitelman Syndrome: A Case Report.

João Rocha1, Mariana Pacheco1, Mariana Matos1

  • 1Internal Medicine, Centro Hospitalar Universitário de São João, Porto, PRT.

Cureus
|June 5, 2023
PubMed
Summary
This summary is machine-generated.

Gitelman syndrome, a rare kidney tubule disorder, was diagnosed in a young man with muscle weakness and low potassium. Genetic testing confirmed the diagnosis, leading to effective treatment with supplements and medication.

Area of Science:

  • Nephrology
  • Genetics
  • Internal Medicine

Background:

  • Gitelman syndrome is a rare inherited kidney tubule disorder.
  • It is characterized by low potassium, low magnesium, metabolic alkalosis, and low urinary calcium.
Keywords:
gitelman syndromehypokalemiahypomagnesemiametabolic alkalosissalt-losing tubulopathyslc12a3

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  • Patients often present with muscle weakness, fatigue, and cramps.