Conceptual Paper
Volume 11 Issue 6 - 2022
Childhood Cerebral Adrenoleukodystrophy: A Review of Current Knowledge
Mariam Mahmoud Hassan El Makkawy*
Department of Paediatrics, AIMST University, Malaysia
*Corresponding Author: Mariam Mahmoud Hassan El Makkawy, Department of Paediatrics, AIMST University, Malaysia.
Received: May 03, 2022; Published: May 27, 2022




ALD is an X-linked peroxisomal disorder with a 1 in 20,000 - 30,000 live births incidence estimate [1]. It is caused by mutations in the adenosine triphosphate (ATP)-binding cassette subfamily D member 1 (ABCD1) (ALDP) gene, which encodes the peroxisomal membrane ALD protein [2]. The transport of very-long-chain fatty acids (VLCFAs) into peroxisomes is impeded in the absence of ALDP, resulting in their breakdown.

VLCFAs build in the plasma, brain, and spinal cord as a result, and adrenal glands of patients with ALD [3].

References

  1. Wiesinger C., et al. “The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis”. Application of Clinical Genetics 8 (2015): 109-121.
  2. Engelen M., et al. “X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management”. Orphanet Journal of Rare Diseases 7 (2012): 51.
  3. Moser AB., et al. “Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls”. Annals of Neurology 1 (1999): 100-110.
  4. Suzuki Y., et al. “Natural history of X-linked adrenoleukodystrophy in Japan”. Brain and Development 5 (2005): 353-357.
  5. Moser HW., et al. “X-linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality: a study involving 372 patients”. Neuropediatrics5 (2000): 227-239.
  6. Raymond GV., et al. “X-linked adrenoleukodystrophy”. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., eds. Gene Reviews [Internet]. Seattle (WA): University of Washington, Seattle 1993-2019.
  7. Shulman DI., et al. “Adrenal insufficiency: still a cause of morbidity and death in childhood”. Pediatrics 2 (2007): e484-e494.
  8. Huffnagel IC., et al. “The natural history of adrenal insufficiency in X-linked adrenoleukodystrophy: an international collaboration”. Journal of Clinical Endocrinology and Metabolism 1 (2019): 118-126.
  9. Dubey P Raymond., et al. “Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening”. Journal of Pediatrics 4 (2005): 528-532.
  10. Raymond GV., et al. “Survival and functional outcomes in boys with cerebral adrenoleukodystrophy with and without hematopoietic stem cell transplantation”. Biology of Blood and Marrow Transplantation 3 (2019): 538-548.
  11. Vogel BH., et al. “Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines”. Molecular Genetics and Metabolism 4 (2015): 599-603.
  12. Lee S Clinard., et al. “Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina”. JAMA Network Open 1 (2020): e1920356.
  13. Melhem ER., et al. “X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression”. American Journal of Neuroradiology 5 (2000): 839-844.
  14. Loes DJ., et al. “Adrenoleukodystrophy: a scoring method for brain MR observations”. American Journal of Neuroradiology 9 (1994): 1761-1766.
  15. Bougnères P., et al. “Long-term followup of hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy”. Human Gene Therapy 19-20 (2021): 1260-1269.
  16. Eichler F., et al. “Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy”. New England Journal of Medicine 17 (2017): 1630-1638.
Citation: Mariam Mahmoud Hassan El Makkawy. “Childhood Cerebral Adrenoleukodystrophy: A Review of Current Knowledge”. EC Paediatrics 11.6 (2022): 51-53.

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