Histidinemia. Classical and atypical form in siblings.
Two brothers, 6 and 13 years old, had histidinemia. On the basis of clinical and biochemical observations, the younger boy was considered to have a classical type of the disease, while the older boy had an atypical form characterized by partial impairment of the skin histidase activity and a moderately prolonged half-life of blood histidine. The mother is a heterozygous carrier, while the father and sister seem to be normal.
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D002648:Child; D003937:Diagnosis, Differential; D006207:Half-Life; D006579:Heterozygote; D006639:Histidine / Q000097:blood / Q000378:metabolism*; D006638:Histidine Ammonia-Lyase / Q000378:metabolism; D006801:Humans; D008297:Male; D010375:Pedigree; D012867:Skin / Q000201:enzymology
D006639:Histidine; D006638:Histidine Ammonia-Lyase