ornithine translocase deficiency
A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.
MONDO:0002254
syndromic disease
is_a
MONDO:0800153
urea cycle disorder or inherited hyperammonemia
is_a
HHH
related
HHH syndrome
exact
HHHS
related
ORNT1 deficiency
exact
hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
exact
ornithine carrier deficiency
exact
ornithine translocase deficiency
exact
ornithine translocase deficiency syndrome
related
triple H syndrome
exact
SPBC21C3.08c