Ornithine Carbamoyltransferase Deficiency Disease

**Semantic type:** Disease or Syndrome

**Definition:** An X-linked urea cycle metabolic disorder characterized by deficiency of ornithine carbamoyltransferase, resulting in the accumulation of amino acids and ammonia in the serum. Signs and symptoms include seizures, delayed growth, behavioral changes, ataxia, lethargy, and coma.

**Synonyms:** - Ornithine Carbamoyltransferase Deficiency - Ornithine Transcarbamylase Deficiency