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ey0016.8-8 | Important for Clinical Practice | ESPEYB16

8.8. The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration

IC Huffnagel , FK Laheji , R Aziz-Bose , NA Tritos , R Marino , GE Linthorst , S Kemp , M Engelen , F Eichler

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(1): 118126.Primary adrenal insufficiency (AI) is a major clinical manifestation in boys and men with X-linked adrenoleukodystrophy (ALD), a progressive neurodegenerative inborn error of metabolism readily diagnosed by detecting elevated plasma very-long-chain fatty acids (VLCFAs), in particular the ratios of C26:0/...

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ey0019.8-10 | New Hope | ESPEYB19

8.10. The brain penetrant PPAR[gamma] agonist leriglitazone restores multiple altered pathways in models of X-linked adrenoleukodystrophy

L Rodriguez-Pascau , A Vilalta , M Cerrada , E Traver , S Forss-Petter , I Weinhofer , J Bauer , S Kemp , G Pina , S Pascual , U Meya , PL Musolino , J Berger , M Martinell , P Pizcueta

Sci Transl Med. 2021; 13(596): eabc0555. PMID: 34078742https://pubmed.ncbi.nlm.nih.gov/34078742/Brief Summary: These in vitro and in vivo studies show that the brain penetrant PPARγ agonist leriglitazone restores multiple biological pathways relevant for neuroinflammatory and neurodegenerative diseases, and particularly for X-linked adreno-leukodystrophy (X-AL...

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ey0020.6-5 | Important for Clinical Practice | ESPEYB20

6.5. International recommendations for the diagnosis and management of patients with adrenoleukodystrophy: A consensus-based approach

M Engelen , WJC van Ballegoij , EJ Mallack , KP Van Haren , W Kohler , E Salsano , ASP van Trotsenburg , F Mochel , C Sevin , MO Regelmann , NA Tritos , A Halper , RH Lachmann , J Davison , GV Raymond , TC Lund , PJ Orchard , JS Kuehl , CA Lindemans , P Caruso , BR Turk , AB Moser , FM Vaz , S Ferdinandusse , S Kemp , A Fatemi , FS Eichler , IC Huffnagel

Brief summary: This paper describes consensus expert recommendations for the diagnosis and management of patients with Adrenoleukodystrophy.Adrenoleukodystrophy (ALD), a progressive metabolic disorder with variable and unpredictable clinical course, is caused by pathogenic variants in ABCD1 gene leading to deficient β-oxidation of saturated very-long-chain fatty acids (VLCFAs) (1, 2). Patients are asymptomatic at birth but ...

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ESPE Yearbook of Paediatric Endocrinology

8.8. The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration

8.10. The brain penetrant PPAR[gamma] agonist leriglitazone restores multiple altered pathways in models of X-linked adrenoleukodystrophy

6.5. International recommendations for the diagnosis and management of patients with adrenoleukodystrophy: A consensus-based approach

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