Argininosuccinic Aciduria

Overview

Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.

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 Argininosuccinic Aciduria

Topic type

Condition

Category

Neurology

MeSH classification

C10.228.140.163.100.937.124|C16.320.565.100.940.124|C16.320.565.189.937.124|C18.452.132.100.937.124|C18.452.648.100.940.124|C18.452.648.189.937.124

Preparing for an appointment about Argininosuccinic Aciduria

If you are speaking with a healthcare professional about Argininosuccinic Aciduria, 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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