Histidinemia
ORPHA:2157· ICD-10 E70.8
Definition
Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal