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Impaired histidine renal tubular absorption

MedGen UID:
870207
Concept ID:
C4024642
Pathologic Function
HPO: HP:0008666

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImpaired histidine renal tubular absorption

Conditions with this feature

Histidine transport defect
MedGen UID:
82825
Concept ID:
C0268642
Disease or Syndrome
A rare disorder of histidine metabolism characterized by histidinuria without histidinemia due to impaired intestinal and renal tubular absorption of histidine. Developmental delay, intellectual disability, seizures, and mild dysmorphic features have been reported in association. There have been no further descriptions in the literature since 1992.

Recent clinical studies

Diagnosis

Nyhan WL, Hilton S
Am J Med Genet 1992 Nov 15;44(5):558-61. doi: 10.1002/ajmg.1320440505. PMID: 1481808

Therapy

Nyhan WL, Hilton S
Am J Med Genet 1992 Nov 15;44(5):558-61. doi: 10.1002/ajmg.1320440505. PMID: 1481808

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