| hydroxyprolinemia |
1. excess of hydroxyproline in the blood. 2. an autosomal recessive aminoacidopathy characterized by an excess of free hydroxyproline in the plasma and urine, due to a defect in the enzyme hydroxyproline oxicase; it may be associated with mental retardation. Called also hyperhydroxyprolinemia.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
|
|---|