CPS1 deficiency

Pathology

hyperammonemia

Genetics

• autosomal recessive
• associated with defects in CPS1

Clinical manifestations

• vomiting in infancy
• protein intolerance
• intermittent ataxia
• seizures
• lethargy
• mental retardation

Laboratory

• increased plasma NH3

More general terms

• amino acid inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/237300