Biochemical and molecular characteristics of Malaysian patients with lysinuric protein intolerance
- Author:
Anasufiza Habib
;
Nor Azimah Azize
;
Yusnita Yakob
;
Zabedah Md Yunus
;
Wee Teik Keng
- Publication Type:Case Reports
- Keywords:
inborn errors of metabolism (IEM);
Lysinuric Protein Intolerance (LPI);
SLC7A7;
orotic acid;
dibasic amino acids;
amino aciduria
- From:The Malaysian Journal of Pathology
2016;38(3):305-310
- CountryMalaysia
- Language:English
-
Abstract:
Lysinuric protein intolerance (LPI) is an inborn error of dibasic amino acid transport due to a defect
in the dibasic amino acid transporter in the renal and intestine and has a heterogenous presentation.
Three Malaysian patients with LPI were studied and their biochemical and molecular findings
compared. There were differences and similarities in the biochemical and molecular findings.
Molecular analysis of SLC7A7 gene revealed a novel mutation c.235G>A; p.(Gly79Arg) in exon
three in Patient 1 and a mutation c.1417C>T; p.(Arg473*) in exon 10 in patient 2 and 3. The degree
of concentration of dibasic amino acids may determine the type of disease of the cell membrane
transport, however, a positive molecular confirmation will secure the diagnosis.
