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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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An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
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Adrenoleukodystrophy presenting as glue sniffing.

Rajesh Kumar Meher1, Rajeswari Aghoram2, Pradeep Pankajakshan Nair1

  • 1Neurology, Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), Puducherry, India.

BMJ Case Reports
|March 15, 2020
PubMed
Summary
This summary is machine-generated.

Adrenoleukodystrophy, a rare genetic disorder, can present atypically in adolescents. This case highlights an unusual initial symptom of glue sniffing, prompting further investigation into the disease.

Keywords:
child and adolescent psychiatry (paediatrics)epilepsy and seizuresmetabolic disorders

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Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Adrenoleukodystrophy (ALD) is a rare peroxisomal disorder characterized by very long-chain fatty acid accumulation.
  • Classic childhood ALD presents with neurological and adrenal dysfunction.

Observation:

  • An adolescent patient presented with symptoms initially attributed to inhalant abuse (glue sniffing).
  • This presentation was atypical for the classical manifestations of Adrenoleukodystrophy.

Findings:

  • The patient was diagnosed with Adrenoleukodystrophy.
  • This case underscores the potential for varied and non-classical initial presentations of ALD.

Implications:

  • Highlights the importance of considering rare genetic disorders in differential diagnoses, even with seemingly unrelated presenting symptoms.
  • Suggests that atypical presentations of Adrenoleukodystrophy may be more common than previously recognized.