Histidinemia

rare

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

Identifiers: MONDO:0009345 OMIM:235800 Orphanet:2157
Causal genes: HAL
Part of: Inborn disorder of histidine metabolism
Also known as: Hal deficiency · HIS deficiency · histidase deficiency · histidine ammonia-lyase deficiency · Histidinuria

Subtypes

All diseases Rare only

Disease

Histidinuria due to a renal tubular defect MONDO:0009346

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