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Pyruvate carboxylase deficiency, Group A

Pyruvate carboxylase deficiency, Group A: Introduction

Pyruvate carboxylase deficiency, Group A: A rare inherited disorder characterized by a deficiency of pyruvate carboxylase which leads to accumulation of lactic acid and other compounds which can have a toxic effect on the nervous system and body organs. Type A has moderately severe symptoms that usually start during infancy. More detailed information about the symptoms, causes, and treatments of Pyruvate carboxylase deficiency, Group A is available below.

Symptoms of Pyruvate carboxylase deficiency, Group A

  • Accumulation of lactic acid in the blood
  • Delayed neurological development
  • Seizures
  • Increased alanine levels
  • Increased praline levels
  • more symptoms...»

Wrongly Diagnosed with Pyruvate carboxylase deficiency, Group A?

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Causes of Pyruvate carboxylase deficiency, Group A

Read more about causes of Pyruvate carboxylase deficiency, Group A.

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Prognosis for Pyruvate carboxylase deficiency, Group A

Prognosis for Pyruvate carboxylase deficiency, Group A: death usually in early infancy, survivors lived to 5 years but had mental retardation

Pyruvate carboxylase deficiency, Group A: Broader Related Topics

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