Histidinemia
Histidine metabolism disease that involves a deficiency of the enzyme histidase / From Wikipedia, the free encyclopedia
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Histidinemia 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.[1] Although originally thought to be linked to multiple developmental disorders histidinemia is now accepted as a relatively benign disorder,[2] leading to a reduction in the prevalence of neonatal screening procedures.[3]
Quick Facts Other names, Specialty ...
Histidinemia | |
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Other names | Histidinuria |
Histidine | |
Specialty | Endocrinology |
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