title: Biochemical and molecular characteristics of Malaysian patients with lysinuric protein intolerance.
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.
authors.affiliation: Institute for Medical Research, Specialised Diagnostic Centre, Biochemistry Unit, Jalan Pahang 50588 Kuala Lumpur, Malaysia. anasufiza@imr.gov.my.
authors.forename: A
authors.initials: A
authors.lastname: Habib
authors.forename: N A
authors.initials: NA
authors.lastname: Azize
authors.forename: Y
authors.initials: Y
authors.lastname: Yakob
authors.forename: Z
authors.initials: Z
authors.lastname: Md Yunus
authors.forename: T K
authors.initials: TK
authors.lastname: Wee
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D027241:Amino Acid Transport System y+L; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D027301:Fusion Regulatory Protein 1, Light Chains / Q000235:genetics*; D006801:Humans; D007223:Infant; D008296:Malaysia; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D027241:Amino Acid Transport System y+L; D027301:Fusion Regulatory Protein 1, Light Chains; C421261:SLC7A7 protein, human