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ornithine carbamoyltransferase deficiency disease

Medical Definition

An inherited urea cycle disorder associated with deficiency of the enzyme ornithine carbamoyltransferase, transmitted as an x-linked trait and featuring elevations of amino acids and ammonia in the serum. clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (menkes, textbook of child neurology, 5th ed, pp49-50)
Related Codes (1)
Code
Description
Billable
Details
E72.4Disorders of ornithine metabolism
Type 1 Excludes (1)

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