Diseases

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

Related Concepts

Knowledge Graph

Loading graph…

Drag nodes to rearrange; hover to trace links; click a node to open its page.

MeSH Record

See Also

MeSH Record

Synonyms

1 entry terms
  • Cystinurias

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Hierarchy

Tree Numbers

  1. C12.050.351.968w.419w.815w.885.250w
  2. C12.200.777w.419w.815w.885.250w
  3. C12.950w.419w.815w.885.250w
  4. C16w.320w.831w.885.250w

AMA Style

References

  1. National Library of Medicine. Cystinuria. Medical Subject Headings (MeSH). 2026. Unique ID D003555. http://id.nlm.nih.gov/mesh/2026/D003555
  2. Cystinuria. In: Wikipedia. https://en.wikipedia.org/wiki/Cystinuria
  3. Cystinuria. In: Wikidata. https://www.wikidata.org/wiki/Q1149046