Carbamoyl-Phosphate Synthase I Deficiency Disease

Overview

A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)

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 Carbamoyl-Phosphate Synthase I Deficiency Disease

Topic type

Condition

Category

Neurology

MeSH classification

C10.228.140.163.100.937.249|C16.320.565.100.940.249|C16.320.565.189.937.249|C18.452.132.100.937.249|C18.452.648.100.940.249|C18.452.648.189.937.249|C18.452.660.097

Preparing for an appointment about Carbamoyl-Phosphate Synthase I Deficiency Disease

If you are speaking with a healthcare professional about Carbamoyl-Phosphate Synthase I 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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