Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity.
Staudt
M
M
Children's Hospital, Technical University, Munich, Germany
Wermuth
B
B
Freisinger
P
P
Hässler
A
A
Pontz
B F
BF
D002675:Child, Preschool; D005260:Female; D006639:Histidine / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008099:Liver / Q000201:enzymology; D008661:Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D009954:Ornithine Carbamoyltransferase / Q000235:genetics / Q000378:metabolism; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D017354:Point Mutation; D011392:Proline / Q000235:genetics / Q000378:metabolism
D006639:Histidine; D011392:Proline; D009954:Ornithine Carbamoyltransferase