Citrullinemia

Overview

A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)

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 Citrullinemia

Topic type

Condition

Category

Neurology

MeSH classification

C10.228.140.163.100.937.374|C16.320.565.100.940.374|C16.320.565.189.937.374|C18.452.132.100.937.374|C18.452.648.100.940.374|C18.452.648.189.937.374

Preparing for an appointment about Citrullinemia

If you are speaking with a healthcare professional about Citrullinemia, 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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