Hypotaurinemia

MedGen UID:: 1702617
•Concept ID:: C5139567
•: Finding

Synonyms:	Decreased circulating taurine levels; Lower blood levels of taurine; Reduced taurine levels in the blood

HPO:	HP:0500182

Definition

A decreased amount of taurine in the blood. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHypotaurinemia

Phenotypic abnormality
- Abnormality of metabolism/homeostasis
  - Abnormal circulating metabolite concentration
    - Abnormal circulating organic compound concentration
      - Abnormal circulating amino sulfonic acid concentration
        Hypotaurinemia

Conditions with this feature

Hypotaurinemic retinal degeneration and cardiomyopathy

MedGen UID:: 1779589
•Concept ID:: C5542181
•: Disease or Syndrome

Hypotaurinemic retinal degeneration and cardiomyopathy (HTRDC) is an autosomal recessive disorder characterized by low plasma taurine, childhood-onset progressive retinal degeneration, and cardiomyopathy (Ansar et al., 2020).

See: Condition Record

Hypotaurinemic retinal degeneration and cardiomyopathy

Recent clinical studies

Etiology

Sulfur amino acids in Cushing's disease: insight in homocysteine and taurine levels in patients with active and cured disease.

Faggiano A, Melis D, Alfieri R, De Martino M, Filippella M, Milone F, Lombardi G, Colao A, Pivonello R
J Clin Endocrinol Metab 2005 Dec;90(12):6616-22. Epub 2005 Sep 20 doi: 10.1210/jc.2005-0656. PMID: 16174722

Taurine supplementation at three different dosages and its effect on trauma patients.

Paauw JD, Davis AT
Am J Clin Nutr 1994 Aug;60(2):203-6. doi: 10.1093/ajcn/60.2.203. PMID: 8030597

See all (2)