What is "histidinemia"

alt. A rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase. n. A rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase.

Histidinemia, also referred to as histidinuria, is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase. Histidase is needed for the metabolism of the amino acid histidine. Although originally thought to be linked to multiple developmental disorders histidinemia is now accepted as a relatively benign disorder, leading to a reduction in the prevalence of neonatal screening procedures.