cystinuria
51Inborn error of metabolism — A heritable disorder of biochemistry. Examples of inborn errors of metabolism include albinism, cystinuria (a cause of kidney stones), phenylketonuria (PKU), and some forms of gout, sun sensitivity, and thyroid disease. These are only a very few… …
52Kidney stone — 1. A stone in the kidney (or lower down in the urinary tract). Kidney stones are a common cause of blood in the urine and pain in the abdomen, flank, or groin. Kidney stones occur in 1 in 20 people at some time in their life. The development of… …
53Transport defect — Within the body, many molecules are able to pass across the membranes that surround cells. These molecules can accomplish this feat due to specific transport systems. These systems include special receptors on the membrane of the cell and special …
54cystinosis — A lysosomal storage disorder with various forms, all with autosomal recessive inheritance. The nephropathic form of early childhood is characterized by widespread deposits of cystine crystals throughout the body, including the bone …
55test — 1. To prove; to try a substance; to determine the chemical nature of a substance by means of reagents. 2. A method of examination, as to determine the presence or absence of a definite disease or of some substance in any of the fluids, tissues,… …
56Congenital disorder of glycosylation type IIc — Classification and external resources OMIM 266265 Congenital disorder of glycosylation type IIc or Leukocyte adhesion deficiency 2 (LAD2) is a type of leukocyte adhesion deficiency attributable to the absence of neutrophil sialyl LewisX, a ligand …
57Congenital endothelial dystrophy type 2 — Classification and external resources A markedly opaque cornea due to stromal edema secondary to defective endothelial cells (Courtesy of Dr. Ahmed A. Hidajat) …
58Allan–Herndon–Dudley syndrome — Classification and external resources OMIM 300523 Allan–Herndon–Dudley syndrome is a rare disorder of brain development that causes moderate to severe mental retardation and problems with movement. This condition, which occurs almost exclusively… …
59cysteamine — noun Etymology: cysteine + amine Date: 1943 a cysteine derivative C2H7NS used especially to treat cystinuria …
60penicillamine — noun Etymology: penicillin + amine Date: 1943 an amino acid C5H11NO2S that is obtained from penicillins and is used especially in the treatment of cystinuria, rheumatoid arthritis, and poisoning by metals (as copper or lead) …
