Adrenoleukodystrophy in the era of newborn screening

Current Opinion in Endocrinology, Diabetes, and Obesity
Liane Eng, Molly O Regelmann

Abstract

Adrenoleukodystrophy (ALD) is a peroxisomal disorder with varying clinical presentations, including adrenal insufficiency, neurologic disease, and testicular dysfunction. The present review is intended to describe the current knowledge of the pathophysiology of ALD and provide an update regarding newborn screening, diagnosis, monitoring, and treatment. New York State initiated newborn screening for ALD on December 30, 2013. Successful ALD newborn screening has led to its addition on other state newborn screens and recommendations for universal screening. Initial incidence reports, based on newborn screening, suggest ALD may be more common than previously described. The Pediatric Endocrine Society has published guidance for monitoring newborn males with ALD and case reports suggest biochemical adrenal insufficiency can be present during early infancy. Allogeneic hematopoietic stem cell transplant and gene therapy have been effective at halting the progression of cerebral ALD. Early diagnosis and monitoring for progression of ALD can prevent adrenal crisis and treat the cerebral form of the disease. Initial guidelines for surveillance are likely to evolve as newborn screening not only aids in early detection and therapeutic inter...Continue Reading

References

Sep 1, 1975·Archives of Neurology·H H SchaumburgE P Richardson
Apr 1, 1976·Journal of Neurochemistry·M IgarashiK Suzuki
Jan 1, 1991·Developmental Neuroscience·H W MoserA Bergin
Jan 1, 1991·Developmental Neuroscience·G UzielM Gambetti
Nov 1, 1989·Neurology·W B RizzoJ A Sgro
Apr 1, 1987·Annals of Neurology·P R AubourgH W Moser
Aug 1, 1981·Proceedings of the National Academy of Sciences of the United States of America·B R MigeonR A Norum
Jul 1, 1997·European Journal of Endocrinology·W BrennemannD Klingmüller
Aug 1, 1997·Brain : a Journal of Neurology·H W Moser
Feb 28, 2001·Annals of Neurology·B M van GeelG V Raymond
Sep 18, 2001·Annals of Neurology·M Di RoccoU Caruso
Aug 23, 2003·Early Human Development·Carolina de WeerthJan K Buitelaar
Jun 1, 1955·The Journal of Clinical Endocrinology and Metabolism·J N HARRIS-JONES, P G NIXON
Jul 13, 2005·Archives of Neurology·Hugo W MoserAugusto Odone
Sep 5, 2006·Biochimica Et Biophysica Acta·Johannes Berger, Jutta Gärtner
Jan 24, 2007·Pediatrics·Dorothy I ShulmanUNKNOWN Lawson Wilkins Drug and Therapeutics Committee
Mar 8, 2007·Nature Clinical Practice. Neurology·Hugo W MoserGerald V Raymond
Mar 18, 2008·Human Molecular Genetics·Stéphane FourcadeAurora Pujol
Jan 7, 2010·Early Human Development·Marieke S TollenaarCarolina de Weerth
Jul 16, 2010·Brain Pathology·Johannes BergerSonja Forss-Petter
Nov 25, 2011·Molecular Genetics and Metabolism·Parastoo JangoukGerald V Raymond
Aug 15, 2012·Orphanet Journal of Rare Diseases·Marc EngelenBwee Tien Poll-The
Feb 20, 2013·Pediatric Neurology·Morten A HornChantal M E Tallaksen
Nov 26, 2013·Molecular Genetics and Metabolism·Christiane ThedaGerald V Raymond
Feb 1, 2014·Brain : a Journal of Neurology·Marc EngelenStephan Kemp
Apr 12, 2014·Hormones : International Journal of Endocrinology and Metabolism·Olga KarapanouStylianos Tsagarakis
Aug 15, 2014·Current Neurology and Neuroscience Reports·Marc EngelenBwee-Tien Poll-The
Aug 26, 2014·Brain : a Journal of Neurology·Morten A HornChantal M E Tallaksen
Jan 14, 2016·The Journal of Clinical Endocrinology and Metabolism·Stefan R BornsteinDavid J Torpy
Jun 1, 2016·Endocrinology and Metabolism Clinics of North America·Elizabeth Burtman, Molly O Regelmann

❮ Previous
Next ❯

Citations

May 1, 2021·International Journal of Neonatal Screening·Jamie MattesonHao Tang

❮ Previous
Next ❯

Related Concepts

Related Feeds

Adrenoleukodystrophy

Adrenoleukodystrophy (ALD), the most frequent peroxisomal disorder, is an X-linked disorder caused by a defect in the metabolism of long chain fatty acids leading to demyelination, neurodegeneration, and death. Here is the latest research.

Blood And Marrow Transplantation

The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.

Addison Disease

Addison's disease, also known as primary adrenal insufficiency and hypocortisolism, is a long-term endocrine disorder in which the adrenal glands do not produce enough steroid hormones. Discover the latest research on Addison's disease here.

Related Papers

The Journal of Clinical Endocrinology and Metabolism
Molly O RegelmannPediatric Endocrine Society Drug and Therapeutics/Rare Diseases Committee
Endocrinology and Metabolism Clinics of North America
Elizabeth Burtman, Molly O Regelmann
International Journal of Neonatal Screening
Ann B MoserGerald Raymond
© 2021 Meta ULC. All rights reserved