Case report of dysregulation of primary bile acid synthesis in a family with X-linked adrenoleukodystrophy.

ABSTRACT:

Rationale

X-linked adrenoleukodystrophy (X-ALD) is a rare disorder caused by mutations in the ABCD1 gene, coding for peroxisomal membrane transporter adrenoleukodystrophy (ALD) protein. The disease is characterized by accumulation of very long chain fatty acids (VLCFAs) in tissues. Adult adrenomyeloneuropathy (AMN) and the cerebral inflammatory form of ALD are the main phenotypes presenting various symptoms.

Patient concerns

We report a case of 37-year-old patient with diagnosis of X-ALD, confirmed based on elevated VLCFA concentrations and genetic testing of ABCD1 gene. The complete clinical picture in the patient indicates AMN phenotype with cerebral involvement.

Diagnoses

The reduced synthesis of unconjugated cholic and chenodeoxycholic acids, and the reduction to

SUBMITTER: Platek T 

PROVIDER: S-EPMC6310492 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature