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Pyruvate carboxylase deficiency

Symptoms of Pyruvate carboxylase deficiency

Wrongly Diagnosed with Pyruvate carboxylase deficiency?

Pyruvate carboxylase deficiency: Related Patient Stories

Pyruvate carboxylase deficiency: Deaths

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Pyruvate carboxylase deficiency: Complications

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Causes of Pyruvate carboxylase deficiency

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Disease Topics Related To Pyruvate carboxylase deficiency

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Misdiagnosis and Pyruvate carboxylase deficiency

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms of multiple sclerosis). See symptoms of more »

Evidence Based Medicine Research for Pyruvate carboxylase deficiency

Medical research articles related to Pyruvate carboxylase deficiency include:

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Prognosis for Pyruvate carboxylase deficiency

Prognosis for Pyruvate carboxylase deficiency: Death tends to occur early in life with survival not anticipated beyond childhood.

Research about Pyruvate carboxylase deficiency

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Statistics for Pyruvate carboxylase deficiency

Pyruvate carboxylase deficiency: Broader Related Topics

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Definitions of Pyruvate carboxylase deficiency:

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) - (Source - Diseases Database)

Pyruvate carboxylase deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Pyruvate carboxylase deficiency, or a subtype of Pyruvate carboxylase deficiency, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Pyruvate carboxylase deficiency as a "rare disease".
Source - Orphanet

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More information about Pyruvate carboxylase deficiency

  1. Symptoms
  2. Causes
  3. Treatments
  4. Misdiagnosis
  5. Deaths
  6. Complications
  7. Prognosis

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