[The hyperaminoacidurias with special reference to cystinuria]. 1979

F Perfumo, and G Basile, and F Ginevri, and R Gusmano

Increased urinary excretion of free amino acids is a sign which requires determination of the underlying cause. Physiological aspects of tubular transport with emphasis on the role played by transport proteins or carriers are briefly discussed. Subsequently we present a resumptive classification. In prerenal hyperaminoaciduria the urinary excretion of amino acids just reflects the error in amino acid metabolism. Depending on tubular reabsorption of the amino acid involved in the metabolic error three types can be distinguished: the overflow, the competitive and the non-threshold hyperaminoacidurias. Renal hyperaminoaciduria can either be specific for individual or group-related amino acids, or generalized involving all amino acids. With the exception of classical cystinuria the various hyperaminoacidurias have more theoretical than clinical importance. Generalized hyperaminoaciduria is always a symptom of severe tubular disturbance which can be produced by various metabolic diseases, intoxications or deficiency states. Finally we present our experience in the treatment of cystinuria with mercaptopropionyl-glycine.

UI MeSH Term Description Entries
D008625 Tiopronin Sulfhydryl acylated derivative of GLYCINE. Mercaptopropionylglycine,Thiopronine,2-Mercaptopropionylglycine,2-Thiol-propionamido-acetic Acid,2-Thiolpropionamidoacetic Acid,Acadione,Captimer,Meprin,Thiola,Tiopronine,alpha-Mercaptopropionylglycine,2 Mercaptopropionylglycine,2 Thiol propionamido acetic Acid,2 Thiolpropionamidoacetic Acid,Acid, 2-Thiol-propionamido-acetic,Acid, 2-Thiolpropionamidoacetic,alpha Mercaptopropionylglycine
D008871 Microvilli Minute projections of cell membranes which greatly increase the surface area of the cell. Brush Border,Striated Border,Border, Brush,Border, Striated,Borders, Brush,Borders, Striated,Brush Borders,Microvillus,Striated Borders
D010396 Penicillamine 3-Mercapto-D-valine. The most characteristic degradation product of the penicillin antibiotics. It is used as an antirheumatic and as a chelating agent in Wilson's disease. Dimethylcysteine,Mercaptovaline,beta,beta-Dimethylcysteine,Copper Penicillaminate,Cuprenil,Cuprimine,D-3-Mercaptovaline,D-Penicillamine,Metalcaptase,D 3 Mercaptovaline,D Penicillamine,Penicillaminate, Copper,beta,beta Dimethylcysteine
D002352 Carrier Proteins Proteins that bind or transport specific substances in the blood, within the cell, or across cell membranes. Binding Proteins,Carrier Protein,Transport Protein,Transport Proteins,Binding Protein,Protein, Carrier,Proteins, Carrier
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003555 Cystinuria An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1. Cystinurias
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000596 Amino Acids Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. Amino Acid,Acid, Amino,Acids, Amino
D001692 Biological Transport The movement of materials (including biochemical substances and drugs) through a biological system at the cellular level. The transport can be across cell membranes and epithelial layers. It also can occur within intracellular compartments and extracellular compartments. Transport, Biological,Biologic Transport,Transport, Biologic

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