Disorders of urea cycle

Urea cycle disorder

Deficient enzymes

Inheritance pattern

Hyperammonemia Type 1

Carbamoyl phosphate synthase 1
(CPS 1)

Autosomal Recessive

Hyperammonemia Type 2

Ornithine trans carbamylase
(OTC)

X-linked Recessive

HHH Syndrome

Ornithine transporter

Autosomal Recessive

Orotic acid aciduria Type 2

Orotidylic acid decarboxylase

Autosomal Recessive

Citrullinemia Type 1

Argininosuccinate Synthetase

Autosomal Recessive