Abstract Search

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/...

0 shares

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 ...

1 shares

ESPE Yearbook of Paediatric Endocrinology

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

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

BiosciAbstracts