Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.
We describe two unrelated cases of ornithine aminotransferase (OAT) deficiency with rare neonatal presentation of hyperammonaemia. The diagnosis in the neonatal presentation of OAT deficiency is hampered as hyperornithinaemia is absent. Enzyme and mutation studies confirmed the diagnosis. OAT deficiency should be included in differential diagnosis of neonatal hyperammonaemia.
Cleary
M A
MA
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, Manchester, UK.
Dorland
L
L
de Koning
T J
TJ
Poll-The
B T
BT
Duran
M
M
Mandell
R
R
Shih
V E
VE
Berger
R
R
Olpin
S E
SE
Besley
G T N
GT
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D000641:Ammonia / Q000097:blood; D001120:Arginine / Q000097:blood; D002956:Citrulline / Q000097:blood; D003937:Diagnosis, Differential; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005973:Glutamine / Q000097:blood; D006801:Humans; D022124:Hyperammonemia / Q000097:blood / Q000175:diagnosis; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D015997:Neonatal Screening; D009952:Ornithine / Q000097:blood; D009953:Ornithine-Oxo-Acid Transaminase / Q000172:deficiency*; D009963:Orotic Acid / Q000097:blood
D005973:Glutamine; D002956:Citrulline; D009963:Orotic Acid; D000641:Ammonia; D001120:Arginine; D009952:Ornithine; D009953:Ornithine-Oxo-Acid Transaminase