Open AccessMild phenotype in an adult male with X‐linked adrenoleukodystrophy – case report
Author(s) -
Horn Morten A.,
Mikaelsen Karin B. M.,
Ferdinandusse Sacha,
Jørum Ellen,
Mellgren Svein I.,
Retterstøl Lars,
Wanders Ronald J. A.,
Tallaksen Chantal M. E.
Publication year - 2016
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.434
Subject(s) - adrenoleukodystrophy , medicine , phenotype , presentation (obstetrics) , clinical phenotype , adult male , pediatrics , genetics , biology , surgery , gene , receptor , peroxisome
Key Clinical Message X‐linked adrenoleukodystrophy may present with a deceptively mild phenotype, even in adult males. Tight collaboration between clinicians, geneticists, biochemists, and other specialists is increasingly required for clarification of diagnosis in cases with atypical presentation.