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Related Concept Videos

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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Pathophysiology of Diabetes01:20

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Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
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Complex carbohydrates consumed cannot be absorbed into the small intestine in their original form. First, they must be hydrolyzed to a monosaccharide form such as glucose or galactose. These monosaccharides are then transported across the intestinal membrane and into the blood via transcellular transport. The intestinal epithelial cells allow the movement of these monosaccharides with a defined 'entry' through membrane transporter proteins present on their apical membrane and...
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Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
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One example of how cells use the energy contained in electrochemical gradients is demonstrated by glucose transport into cells. The ion vital to this process is sodium (Na+), which is typically present in higher concentrations extracellularly than in the cytosol. Such a concentration difference is due, in part, to the action of an enzyme "pump" embedded in the cellular membrane that actively expels Na+ from a cell. Importantly, as this pump contributes to the high concentration of...
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  3. Research Domains
  5. Biomedical And Clinical Sciences
  7. Paediatrics
  9. Infant And Child Health
  11. Glucose-6-phosphate Transporter Deficiency (gsd Type Ib) In An Infant With An Ominous Outcome.
  1. Home
  3. Research Domains
  5. Biomedical And Clinical Sciences
  7. Paediatrics
  9. Infant And Child Health
  11. Glucose-6-phosphate Transporter Deficiency (gsd Type Ib) In An Infant With An Ominous Outcome.

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Glucose-6-phosphate transporter deficiency (GSD type Ib) in an infant with an ominous outcome.

Aneeta Chaudhary1,2, Shalini Tripathi3, Smrati Jain4,5

  • 1Paediatrics, King George's Medical University, Lucknow, Uttar Pradesh, India aneeta75.aa@gmail.com.

BMJ Case Reports
|December 17, 2025

View abstract on PubMed

Summary
This summary is machine-generated.

Glycogen storage disease type Ib (GSD-Ib) in an infant caused severe metabolic issues and recurrent infections due to immune dysfunction. Genetic testing confirmed GSD-Ib, highlighting the need for genetic counseling.

Keywords:
GeneticsNutrition and metabolismPaediatrics

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Area of Science:

  • Pediatrics
  • Genetics
  • Immunology

Background:

  • Glycogen storage disease type Ib (GSD-Ib) is a rare inherited metabolic disorder.
  • It is characterized by impaired glucose metabolism and immune system dysfunction.
  • Patients with GSD-Ib often present with recurrent infections and metabolic derangements.

Purpose of the Study:

  • To report a case of GSD-Ib in a male infant presenting with severe symptoms.
  • To highlight the association between GSD-Ib and immune dysfunction, specifically neutropenia.
  • To emphasize the importance of genetic testing and counseling in managing GSD-Ib.

Main Methods:

  • Clinical presentation and examination findings of the infant were documented.
  • Laboratory investigations including lactate levels and metabolic acidosis assessment were performed.
  • Genetic testing identified a homozygous splice site variant in the SLC37A4 gene, confirming GSD-Ib.

    • Main Results:

    • The infant presented with abdominal distension, diarrhea, fever, respiratory distress, hepatosplenomegaly, and characteristic facial features.
    • He developed severe metabolic acidosis, elevated lactate, and required mechanical ventilation.
    • Persistent infections including sepsis, UTI, and ventilator-associated pneumonia occurred despite antibiotic therapy.

    Conclusions:

    • This case underscores the significant immune dysfunction, including neutropenia and neutrophil impairment, associated with GSD-Ib.
    • This immune compromise leads to increased susceptibility to severe infections and poor treatment response.
    • Genetic confirmation of GSD-Ib necessitates genetic counseling and consideration of prenatal testing for affected families.