Warning: The NCBI web site requires JavaScript to function. more...

Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Renal aminoaciduria

MedGen UID:: 254
•Concept ID:: C0002534
•: Disease or Syndrome

Synonyms:	Aminoaciduria, Renal; Aminoacidurias, Renal; Renal Aminoaciduria; Renal Aminoacidurias

Monarch Initiative:	MONDO:0006944

Definition

A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved. [from MONDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVRenal aminoaciduria

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Inborn genetic diseases
  - Inborn errors of metabolism
    - Renal tubular transport disease
      - Renal aminoaciduria
        Cystinuria
        Cystinuria type A
        Cystinuria type B
        Neutral 1 amino acid transport defect

Professional guidelines

PubMed

A SIMPLE CHROMATOGRAPHIC SCREENING TEST FOR THE DETECTION OF DISORDERS OF AMINO ACID METABOLISM. A TECHNIC USING WHOLE BLOOD OR URINE COLLECTED ON FILTER PAPER.

EFRON ML, YOUNG D, MOSER HW, MACCREADY RA
N Engl J Med 1964 Jun 25;270:1378-83. doi: 10.1056/NEJM196406252702602. PMID: 14152868

CONTRIBUTIONS OF A CLINICAL GENETICS LABORATORY TO THE DIAGNOSIS AND TREATMENT OF DISEASE IN CHILDHOOD.

GERALD PS, EFRON ML
Postgrad Med 1963 Sep;34:216-21. doi: 10.1080/00325481.1963.11694835. PMID: 14045779

Recent clinical studies

Diagnosis

Hypouricaemia and proximal renal tubular dysfunction in acute myeloid leukaemia.

Mir MA, Delamore IW
Br Med J 1974 Sep 28;3(5934):775-7. doi: 10.1136/bmj.3.5934.775. PMID: 4528597 Free PMC Article

Therapy

Hypouricaemia and proximal renal tubular dysfunction in acute myeloid leukaemia.

Mir MA, Delamore IW
Br Med J 1974 Sep 28;3(5934):775-7. doi: 10.1136/bmj.3.5934.775. PMID: 4528597 Free PMC Article

Supplemental Content

Table of contents

Clinical resources

ClinicalTrials.gov

Practice guidelines

PubMed
See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
Bookshelf
See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

Consumer resources

MedlinePlus

Reviews

Related information

MeSH
Related Medical Subject Headings
PMC Articles
Related information in PubMed Central Links
PubMed
Related literature resources in PubMed

Recent activity

Clear Turn Off Turn On

Renal aminoaciduria
Renal aminoaciduria

MedGen
Bcan brevican [Mus musculus]
Bcan brevican [Mus musculus]
Gene ID:12032

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...