Pure familial hyperprolinemia: isolated inborn error of aminoacid metabolism without other anomalies in a Sicilian family.
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005998:Glycine / Q000097:blood; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D011392:Proline / Q000097:blood* / Q000652:urine; D011758:Pyrroles / Q000652:urine
D011758:Pyrroles; D011392:Proline; D005998:Glycine