Ontology highlight
ABSTRACT:
SUBMITTER: Nakhaei S
PROVIDER: S-EPMC6305814 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Nakhaei Shahrbanoo S Heidary Hamed H Rahimian Aliasghar A Vafadar Mahdi M Rohani Farzaneh F Bahoosh Gholam Reza GR Amirkashani Davoud D
Iranian biomedical journal 20180224 6
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive metabolic disorder caused by mutations in gene encoding the domain-5 of α/β-hydrolase enzyme (ABHD5). It is known as a natural lipid storage disorder arising from impaired lipid metabolism often characterized by hepatomegaly, myopathy, ataxia, non-bullous ichthyosiform erythroderma, hearing loss, and mental retardation. In the present study, we report two affected 28-month-old monozygotic twin boys as new cases of CDS. Genetic analysi ...[more]