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8.14. A report on state-wide implementation of newborn screening for X-linked adrenoleukodystrophy

K Wiens , SA Berry , H Choi , A Gaviglio , A Gupta , A Hietala , D Kenney-Jung , T Lund , W Miller , EI Pierpont , G Raymond , H Winslow , HA Zierhut , PJ Orchard

To read the full abstract: Am J Med Genet A. 2019; 179(7):12051213.X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, with an estimated incidence in the USA of ~1:17,000 all births (male and female) and 1:21,000 male births. X-ALD is caused by mutations in the X chromosome gene ABCD1, which encodes the peroxisomal membrane protein, ATP-bin...

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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

8.14. A report on state-wide implementation of newborn screening for X-linked adrenoleukodystrophy

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

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