Hydroxyprolinaemia with normal development.
A 6th case of hydroxyprolinaemia is described. The response to an oral hydroxyproline load failed to demonstrate an abnormal response in a presumed heterozygote. The infant is developing normally at age 36 months and we agree with others that this aminoacidaemia is benign.
D000592:Amino Acid Metabolism, Inborn Errors / Q000503:physiopathology; D006128:Growth; D006801:Humans; D006909:Hydroxyproline / Q000097:blood* / Q000652:urine; D007223:Infant; D008297:Male
D006909:Hydroxyproline