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Descriptor English: Cystinuria
Descriptor Spanish: Cistinuria
Descriptor cistinuria
Scope note: Anomalía congénita del transporte tubular renal de los aminoácidos dibásicos que produce excreción urinaria masiva de cistina, lisina, arginina, y ornitina.
Descriptor Portuguese: Cistinúria
Descriptor French: Cystinurie
Entry term(s): Cystinurias
Tree number(s): C12.050.351.968.419.815.885.250
C12.200.777.419.815.885.250
C12.950.419.815.885.250
C16.320.831.885.250
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D003555
Scope note: 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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
DeCS ID: 3573
Unique ID: D003555
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1966/01/01
Date of Entry: 1999/01/01
Revision Date: 2013/07/08
Cystinuria - Preferred
Concept UI M0005557
Scope note 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.
Preferred term Cystinuria
Entry term(s) Cystinurias



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