[autosomal recessive aminoacidopathy due to deficiency of histidine ammonia-lyase; characterized by accumulation of histidine in serum and urinary excretion of histidine and metabolites, but is usually benign; may cause mild central nervous system dysfunction. ( CSP )]
UMLS (CSP) C0220992 Relation/PAR: Amino Acid Metabolism, Inborn Errors
Arrieration mentale