Tryptophanuria

MedGen UID:: 75684
•Concept ID:: C0268472
•: Disease or Syndrome

Synonym:	High urine tryptophan levels
SNOMED CT:	Tryptophanuria (18789002)

HPO:	HP:0003361

Definition

An increased concentration of tryptophan in the urine. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVTryptophanuria

Abnormality of urine homeostasis
- Abnormal urine metabolite level
  - Abnormal urine amino acid level
    - Aminoaciduria
      - Increased proteinogenic amino acid level in urine
        Increased aromatic amino acid level in urine
        Tryptophanuria

Conditions with this feature

Tryptophanuria with dwarfism

MedGen UID:: 78680
•Concept ID:: C0268473
•: Disease or Syndrome

See: Condition Record

Familial hypertryptophanemia

MedGen UID:: 419177
•Concept ID:: C2931837
•: Disease or Syndrome

Congenital hypertryptophanemia, which is accompanied by hyperserotonemia, does not appear to have significant clinical consequences (Ferreira et al., 2017).

See: Condition Record

Familial hypertryptophanemia

Tryptophanuria with dwarfism

Recent clinical studies

Diagnosis

Genetic regulatory element based whole-cell biosensors for the detection of metabolic disorders.

Dhyani R, Jain S, Bhatt A, Kumar P, Navani NK
Biosens Bioelectron 2022 Mar 1;199:113869. Epub 2021 Dec 12 doi: 10.1016/j.bios.2021.113869. PMID: 34915213

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