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Histidinemia

Orpha number ORPHA2157
Synonym(s) Histidase deficiency
Histidinuria
Prevalence 1-9 / 100 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • E70.8
ICD-O -
OMIM
UMLS
  • C0220992
MeSH
  • C538320
MedDRA -

Summary

Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.


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