Histidinemia

Orpha code: 2157OMIM code: 235800

Definition

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

Disease data
Classification

Disease

Synonyms
HAL deficiency
Hiperhistydynemia
Histydynuria
Niedobór amoniakoliazy histydyny
Niedobór HAL
Niedobór HIS
Niedobór histydazy
HIS deficiency
Histidase deficiency
Histidine ammonia-lyase deficiency
Histidinuria
Hyperhistidinemia
ORPHA code
2157
OMIM code
235800
ICD10 code
E70.8
ICD11 code
5C50.20

No additional description.

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