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Dictionary » Pyruvate carboxylase deficiency
 

Pyruvate carboxylase deficiency

Introduction: Pyruvate carboxylase deficiency

Description of Pyruvate carboxylase deficiency

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: Related Topics

These medical condition or symptom topics may be relevant to medical information for Pyruvate carboxylase deficiency:

Pyruvate carboxylase deficiency: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

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

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

Source - Orphanet

Pyruvate carboxylase deficiency as a Disease

Pyruvate carboxylase deficiency (medical condition): See Pyruvate carboxylase deficiency (disease information).
  »Introduction: Pyruvate carboxylase deficiency
  »Symptoms of Pyruvate carboxylase deficiency

Pyruvate carboxylase deficiency: Related Diseases

Pyruvate carboxylase deficiency: Pyruvate carboxylase deficiency is listed as a type of (or associated with) the following medical conditions in our database:

More information on medical condition: Pyruvate carboxylase deficiency:

Pyruvate carboxylase deficiency: Related Disease Topics

These medical disease topics may be related to Pyruvate carboxylase deficiency:

Terms associated with Pyruvate carboxylase deficiency:

Terms Similar to Pyruvate carboxylase deficiency:

Source - NIH

External links related to: Pyruvate carboxylase deficiency

Source: Diseases Database

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