DISEASE: Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
Entry
H02754 Disease
Name
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
Description
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (ARLIAK) is a very rare condition caused by mutations in SLC13A3. Patients exhibit a reversible leukoencephalopathy and urinary excretion alpha-ketoglutarate that was markedly increased and persisted over time. SLC13A3 encodes a plasma membrane cotransporter expressed in kidney, brain, liver, placenta, and eye.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Disorders of metabolite absorption or transport
5C60 Disorders of amino acid absorption or transport
H02754 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
Dewulf JP, Wiame E, Dorboz I, Elmaleh-Berges M, Imbard A, Dumitriu D, Rak M, Bourillon A, Helaers R, Malla A, Renaldo F, Boespflug-Tanguy O, Vincent MF, Benoist JF, Wevers RA, Schlessinger A, Van Schaftingen E, Nassogne MC, Schiff M
Title
SLC13A3 variants cause acute reversible leukoencephalopathy and alpha-ketoglutarate accumulation.
Kang Q, Yang L, Liao H, Yang S, Yang H, Ning Z, Liao C, Wu L
Title
Case Report: Compound Heterozygous Variants of SLC13A3 Identified in a Chinese Patient With Acute Reversible Leukoencephalopathy and alpha-Ketoglutarate Accumulation.
