Histidinemia
Overview
A metabolic disorder where there is a deficiency of the histidase enzyme which is needed to metabolise the amino acid called histidine. Histidine levels then buildup of histidine in the blood and urine.
Symptoms
* Mental retardation * Speech retardation * Increased urinary histidine * Increased urinary alanine * Increased plasma histidine * Increased plasma alanine * Increased blood level of histidine
Diagnosis
signs and symptoms of Histidinemia may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Histidinemia symptoms.