[Remarks on a clinical case of partial carbamyl phosphate synthetase deficiency].
A preliminary undiagnosed case of partial carbamyl-phosphate-synthetase deficiency in a 14 year old patient is described. This extremely rare metabolic disorder is unlikely to produce clinical symptoms at such an advanced age. Details are given of the clinical picture, the diagnosis (by liver biopsy and post mortem liver examination) and the attempts at treatment.
Gomirato
G
G
Giaretto
G
G
Bonomi
A
A
Rossi
E
E
Rovere
A
A
Radeschi
G
G
Crosato
M
M
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D000641:Ammonia / Q000097:blood*; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000172:deficiency*; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D012202:Reye Syndrome / Q000175:diagnosis
D000641:Ammonia; D002222:Carbamoyl-Phosphate Synthase (Ammonia)
Osservazioni su un caso clinico di deficit parziale di carbamil-fosfato-sintetasi.