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Related Concept Videos

Glucose Transporters01:27

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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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Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
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Severe Hypercalcemia in an Infant With Transient Disaccharidase Deficiency.

Carly Barron1, Shira Novack2, Erealda Prendaj3

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Summary

Transient disaccharidase deficiency can cause severe hypercalcemia in infants. Dietary changes resolved the condition, suggesting a temporary metabolic link.

Keywords:
disaccharidase deficiencygrowth failurehypercalcemia

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Area of Science:

  • Pediatrics
  • Inborn errors of metabolism
  • Gastroenterology

Background:

  • Severe hypercalcemia in infants presents diagnostic challenges.
  • Common causes of hypercalcemia were ruled out in this case.
  • Growth failure and feeding intolerance indicated a metabolic issue.

Observation:

  • An 11-month-old presented with severe hypercalcemia and nephrocalcinosis.
  • Hypercalcemia persisted despite hydration and a low-calcium diet.
  • Positive stool-reducing substances and low disaccharidase levels were noted.

Findings:

  • Dietary modification to a disaccharide-free formula resolved hypercalcemia.
  • Disaccharide reintroduction maintained normal calcium levels.
  • Genetic testing for congenital disaccharidase deficiency was negative.

Implications:

  • This case highlights transient disaccharidase deficiency as a rare cause of infant hypercalcemia.
  • The underlying mechanism linking disaccharidase deficiency to hypercalcemia requires further investigation.
  • Early diagnosis and dietary management are crucial for affected infants.