DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Metabolism, Inborn Errors [C16.320.565] Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors [C16.320.565.100] Amino Acid Metabolism, Inborn Errors Amino Acid Transport Disorders, Inborn [C16.320.565.151] Amino Acid Transport Disorders, Inborn Hartnup Disease [C16.320.565.151.355] Hartnup Disease Oculocerebrorenal Syndrome [C16.320.565.151.600] Oculocerebrorenal Syndrome Amyloidosis, Familial [C16.320.565.176] Amyloidosis, Familial Brain Diseases, Metabolic, Inborn [C16.320.565.189] Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors [C16.320.565.202] Carbohydrate Metabolism, Inborn Errors Cytochrome-c Oxidase Deficiency [C16.320.565.240] Cytochrome-c Oxidase Deficiency Hyperbilirubinemia, Hereditary [C16.320.565.300] Hyperbilirubinemia, Hereditary Lipid Metabolism, Inborn Errors [C16.320.565.398] Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases [C16.320.565.595] Lysosomal Storage Diseases Metal Metabolism, Inborn Errors [C16.320.565.618] Metal Metabolism, Inborn Errors Peroxisomal Disorders [C16.320.565.663] Peroxisomal Disorders Progeria [C16.320.565.753] Progeria Purine-Pyrimidine Metabolism, Inborn Errors [C16.320.565.798] Purine-Pyrimidine Metabolism, Inborn Errors Renal Tubular Transport, Inborn Errors [C16.320.565.893] Renal Tubular Transport, Inborn Errors Steroid Metabolism, Inborn Errors [C16.320.565.925] Steroid Metabolism, Inborn Errors DISEASES Nutritional and Metabolic Diseases [C18] Nutritional and Metabolic Diseases Metabolic Diseases [C18.452] Metabolic Diseases Metabolism, Inborn Errors [C18.452.648] Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors [C18.452.648.100] Amino Acid Metabolism, Inborn Errors Amino Acid Transport Disorders, Inborn [C18.452.648.151] Amino Acid Transport Disorders, Inborn Hartnup Disease [C18.452.648.151.355] Hartnup Disease Oculocerebrorenal Syndrome [C18.452.648.151.600] Oculocerebrorenal Syndrome Amyloidosis, Familial [C18.452.648.176] Amyloidosis, Familial Brain Diseases, Metabolic, Inborn [C18.452.648.189] Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors [C18.452.648.202] Carbohydrate Metabolism, Inborn Errors Hyperbilirubinemia, Hereditary [C18.452.648.300] Hyperbilirubinemia, Hereditary Lipid Metabolism, Inborn Errors [C18.452.648.398] Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases [C18.452.648.595] Lysosomal Storage Diseases Metal Metabolism, Inborn Errors [C18.452.648.618] Metal Metabolism, Inborn Errors Peroxisomal Disorders [C18.452.648.663] Peroxisomal Disorders Progeria [C18.452.648.753] Progeria Purine-Pyrimidine Metabolism, Inborn Errors [C18.452.648.798] Purine-Pyrimidine Metabolism, Inborn Errors Renal Tubular Transport, Inborn Errors [C18.452.648.893] Renal Tubular Transport, Inborn Errors Steroid Metabolism, Inborn Errors [C18.452.648.925] Steroid Metabolism, Inborn Errors

Amino Acid Transport Disorders, Inborn - Preferred

Concept UI	M0328095
Scope note	Disorders characterized by defective transport of amino acids across cell membranes. These include deficits in transport across brush-border epithelial cell membranes of the small intestine (MICROVILLI) and KIDNEY TUBULES; transport across the basolateral membrane; and transport across the membranes of intracellular organelles. (From Nippon Rinsho 1992 Jul;50(7):1587-92)
Preferred term	Amino Acid Transport Disorders, Inborn
Entry term(s)	Inborn Transport Disorders, Amino Acid Inherited Amino Acid Transport Disorders Transport Disorders, Amino Acid, Inborn