Acute transient encephalopathy (ENPAT) is a novel disease characterized by recurrent reversible encephalopathy accompanied by acute febrile or afebrile illness. The patient brains displayed substantial loss of xenobiotic clearance ability. It has been reported that mutations in ABCB1 cause this disease. ABCB1 encodes a transmembrane transporter P-glycoprotein which pumps out a wide range of xenobiotic compounds from cells.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Other disorders of the nervous system
8E47 Encephalopathy, not elsewhere classified
H02831 Acute transient encephalopathy