Which of the following enzyme deficiency of the Krebs-Henseleit urea cycle is X-linked dominant in inheritance?
The enzymes involved in INHERITED HYPERAMMONEMIAS are: 1. N-acetyl glutamate synthetase - Autosomal Recessive 2. Carbamyl phosphate synthetase (CPS) - Autosomal Recessive 3. Ornithine transcarbamylase (OTC) - X-linked dominant 4. Argininosuccinic acid synthetase (citrullinemia) - Autosomal Recessive 5. Argininosuccinase deficiency - Autosomal Recessive 6. Arginase deficiency - Autosomal Recessive The pattern of inheritance of each of these disorders is autosomal recessive except for OTC deficiency, which is X-linked dominant. Their clinical manifestations are a common expression of an accumulation of ammonia or of urea cycle intermediates in the brain; they differ only in severity, in accordance with the degree of completeness of the enzymatic deficiency and with the age of the affected individual. Ref: Ropper A.H., Samuels M.A. (2009). Chapter 37. Inherited Metabolic Diseases of the Nervous System. In A.H. Ropper, M.A. Samuels (Eds), Adams and Victor's Principles of Neurology, 9e.
Ornithine transcarbamylase
Argininosuccinase deficiency
N-acetyl glutamate synthetase
Carbamyl phosphate synthetase