Biomaterial Database

[Cystinosis and cystinuria]. 1958

C Hooft, and J Herpoll

UI	MeSH Term	Description	Entries
D008659	Metabolic Diseases	Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)	Thesaurismosis,Diseases, Metabolic,Disease, Metabolic,Metabolic Disease,Thesaurismoses
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
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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