| histidinemia |
an autosomal recessive aminoacidopathy due to deficiency of histidine ammonia-lyase; it is characterized by accumulation of histidine in serum and urinary excretion of histidine and metabolites, but is usually benign. In some cases it may cause mild central nervous system dysfunction.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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