Histidinemia

Definition

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

Also known as Hal deficiency, HIS deficiency, histidase deficiency, histidine ammonia-lyase deficiency, histidinemia, Histidinuria, hyperhistidinemia — per MONDO

Also identified as

• DOID 0060168 per MONDO
• ICD10CM E70.41 per MONDO
• MESH C538320 per MONDO
• OMIM 235800 per MONDO
• Orphanet 2157 per MONDO
• SCTID 410058007 per MONDO
• UMLS C0220992 per MONDO