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Elevated urinary N-tau-ribosylhistidine level

MedGen UID:
1054185
Concept ID:
CN377453
Finding
Synonym: Elevated urinary N-ribosylhistidine level
 
HPO: HP:6000621

Definition

Presence of N tau-ribosylhistidine (His-R) in the urine. His-R is a histidine derivative found in the urine of histidinemic patients. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated urinary N-tau-ribosylhistidine level

Conditions with this feature

Histidinemia
MedGen UID:
113135
Concept ID:
C0220992
Disease or Syndrome
Histidinemia is a metabolic disorder characterized by increased levels of histidine in blood, urine, and cerebrospinal fluid, and decreased levels of the metabolite urocanic acid in blood, urine, and skin cells. Although histidinemia was originally associated with mental retardation and speech defects, it is generally considered to be a benign disorder (Levy et al., 2001). However, it is possible that histidinemia may be a risk factor for developmental disorders in certain individuals under specific circumstances, such as perinatal events (Ishikawa, 1987).

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