Biochemical and molecular characteristics of Malaysian patients with lysinuric protein intolerance
The Malaysian Journal of Pathology
; : 305-310, 2016.
Article
en En
| WPRIM
| ID: wpr-630827
Biblioteca responsable:
WPRO
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.
Texto completo:
1
Base de datos:
WPRIM
Idioma:
En
Revista:
The Malaysian Journal of Pathology
Año:
2016
Tipo del documento:
Article