[Inherited amino acid transport disorders].
Disorders due to inherited amino acids transport defect are reviewed. The disorders were categorized into three types of transport defects, namely, brush-border membrane of epithelial cells of small intestine and kidney tubules (Hartnup disease, blue diaper syndrome, cystinuria, iminoglycinuria and lysine malabsorption syndrome), basolateral membrane (lysinuric protein intolerance) and membrane of intracellular organelles (cystinosis and hyperornitinemia-hyperammonemia-homocitrullinuria syndrome). Pathogenesis, clinical feature, laboratory findings, diagnosis, genetics and treatment of these disorders are described, briefly. There is not much data for the transport systems themselves, so that further investigation in molecular and gene levels for transport systems is necessary to clarify the characteristics of the transport and heterogeneity of phenotypes in inherited amino acids transport disorders.
Igarashi
Y
Y
Department of Pediatrics, Tohoku University, School of Medicine.
Tada
K
K
D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism*; D000596:Amino Acids / Q000378:metabolism*; D001485:Basement Membrane / Q000378:metabolism; D001692:Biological Transport; D003555:Cystinuria / Q000378:metabolism; D006250:Hartnup Disease / Q000378:metabolism; D006801:Humans; D007421:Intestine, Small / Q000378:metabolism; D007684:Kidney Tubules / Q000378:metabolism; D008871:Microvilli / Q000378:metabolism
D000596:Amino Acids