Pyruvate Carboxylase Deficiency Disease

Overview

An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)

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 Pyruvate Carboxylase Deficiency Disease

Topic type

Condition

Category

Neurology

MeSH classification

C10.228.140.163.100.725|C16.320.565.189.725|C16.320.565.202.810.666|C18.452.132.100.725|C18.452.648.189.725|C18.452.648.202.810.666|C18.452.660.705

Preparing for an appointment about Pyruvate Carboxylase Deficiency Disease

If you are speaking with a healthcare professional about Pyruvate Carboxylase 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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