"Cystinuria" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
Descriptor ID |
D003555
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MeSH Number(s) |
C12.777.419.815.885.250 C13.351.968.419.815.885.250 C16.320.565.861.885.250 C18.452.648.861.885.250
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Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Cystinuria".
Below are MeSH descriptors whose meaning is more specific than "Cystinuria".
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Below are the most recent publications written about "Cystinuria" by people in Profiles.