Ornithine Carbamoyltransferase Deficiency Disease

Overview

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)

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Ornithine Carbamoyltransferase Deficiency Disease

Topic type

Condition

Category

Neurology

MeSH classification

C10.228.140.163.100.937.750|C16.320.322.828|C16.320.565.100.940.750|C16.320.565.189.937.750|C18.452.132.100.937.500|C18.452.648.100.940.500|C18.452.648.189.937.500

Preparing for an appointment about Ornithine Carbamoyltransferase Deficiency Disease

If you are speaking with a healthcare professional about Ornithine Carbamoyltransferase Deficiency Disease, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

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