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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Histidinemia is caused by variants (also called mutations) in the HAL gene, which provides instructions for making an enzyme called histidase. Histidase breaks down histidine that the body gets from food. Histidase is active (expressed) primarily in the liver and the skin.

HAL gene variants impair the enzyme's ability to break down histidine, which causes histidine to build up in the blood, urine, and cerebrospinal fluid.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Histidinemia?"},{"bodyHtml":"

In most cases, histidinemia does not cause health problems. Most people with elevated histidine levels are unaware that they have this condition. Rarely, people with histidinemia have intellectual disabilities, learning disabilities, or behavioral problems. Having a medical complication during or soon after birth might increase the risk of developmental problems in people with histidinemia.

Source: MedlinePlus Genetics

","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"histidinemia","sourceDocuments":[{"name":"Histidinemia","reviewed":"2024-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:13.794511+00:00","label":"Causes","pageSha256":"ba41af49a2813ef2ff6ad962367f2102e70ee198ec18332a2a74ab80e85634b4","sourceUrl":"https://medlineplus.gov/genetics/condition/histidinemia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/histidinemia"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Histidinemia"},"schemaVersion":1}