Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine. It is a genetic disorder that typically follows an autosomal recessive inheritance pattern. Cystinosis is the most common cause of Fanconi syndrome in the pediatric age group. Fanconi syndrome occurs when the function of cells in renal t...
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inborn error of metabolism resulting in the deposition of crystals of the amino acid cystine in various body tissues. Tissues that are particularly ... [1 related articles]
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Lysosomal storage disorders of unknown molecular defect, characterised by widespread deposition of cystine crystals in reticuloendothelial cells. ... (12 Dec 1998) ...
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(sis″tĭ-no´sis) a hereditary inborn error of metabolism, appearing in various forms. The early onset or infantile form is seen in babies and is marked by osteomalacia, amino acids and phosphates in the urine, and deposition of cystine throughout the body, including in the liver, bone marrow, kidney, spleen, and cor...
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Type: Term Pronunciation: sis′ti-nō′sis Definitions: 1. 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 marrow, cornea, and other tissues, with mild ...
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http://www.medilexicon.com/medicaldictionary.php?t=22526
Cystinosis: A genetic disease characterized by the widespread deposition of the amino acid cystine in cells due to a defect in cystine transport. (Cystine normally forms after protein degradation and is transported from structures called lysosomes into the cytoplasm. In cystinosis, cystine accumulates in the lysoosmes and eventually forms crystals ...
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