hrp0092p2-9 | Adrenals and HPA Axis | ESPE2019

The Clinical Polymorphism and Variability of X-linked Adrenoleukodystrophy in One Russian Family

Sidorova Yuliya , Sozaeva Leila , Kareva Maria , Peterkova Valentina

Adrenoleukodystrophy is an X-linked, inherited metabolic disorder. Here, we present 3 clinical cases of different phenotypes with one mutation in ABCD1 gene in one family.Patient 1: At the age of 9 years, manifestation of neurological symptoms was observed, skin color changed, these symptoms progressed monthly. MRI of the brain showed 13 points on Loes scale.During the examination, the diagnosis of X-linke...