histidinemia

Pronunciation: his′ti-di-nē′mē-ă

Definition: A metabolic disorder characterized by speech defects, growth deficiency, and mild mental retardation in some patients; associated with elevation of blood histidine level and excretion of histidine and related imidazole metabolites in urine due to deficiency of histidine ammonia lyase or histidinase; autosomal recessive inheritance, caused by mutation in the histidinase gene (HIS) on chromosome 12q.

[histidine + G. haima, blood, + -ia]

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