buphenyl

buphenyl

An orphan drug for managing urea cycle disorders—e.g., deficiencies of carbamylphosphate synthetase, ornithine transcarbamylase, or argininosuccinic acid synthetase—and indicated for infants with neonatal-onset deficiencies presenting within the first 28 days of life, in whom episodes of acute hyperammonemic encephalopathy are often fatal, and when not, often result in profound mental retardation.
Adverse effects
Amenorrhoea, anorexia, body odour due to phenylacetate excess, abdominal pain, nausea, arrhythmias, renal tubular acidosis, rash, headaches, syncope, weight gain, metabolic acidosis, increased alkaline phosphatase, anaemia.