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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the PC gene cause pyruvate carboxylase deficiency. This gene provides instructions for making an enzyme called pyruvate carboxylase. This enzyme is active in mitochondria, which are the energy-producing centers within cells. It is involved in several important cellular functions, including the generation of glucose, a simple sugar that is the body&#x27;s main energy source. Pyruvate carboxylase also plays a role in the formation of the protective sheath that surrounds certain nerve cells (myelin) and the production of brain chemicals called neurotransmitters that allow nerve cells to communicate with one another.</p><p>Mutations in the PC gene reduce the amount of pyruvate carboxylase in cells or disrupt the enzyme&#x27;s activity. The missing or altered enzyme cannot carry out its essential role in generating glucose, which impairs the body&#x27;s ability to make energy in mitochondria. Additionally, a loss of pyruvate carboxylase allows compounds such as lactic acid and ammonia to build up and damage organs and tissues. Researchers suggest that the loss of pyruvate carboxylase function in the nervous system, particularly the role of the enzyme in myelin formation and neurotransmitter production, also contributes to the neurologic features of pyruvate carboxylase deficiency.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/pyruvate-carboxylase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Pyruvate carboxylase deficiency?"},{"bodyHtml":"<p>Researchers have identified at least three types of pyruvate carboxylase deficiency, which are distinguished by the severity of their signs and symptoms. Type A, which has been identified mostly in people from North America, has severe symptoms that begin in infancy. Characteristic features include developmental delay and a buildup of lactic acid in the blood (lactic acidosis). Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. In some cases, episodes of lactic acidosis are triggered by an illness or periods without food (fasting). Children with pyruvate carboxylase deficiency type A typically survive only into infancy or early childhood.</p><p>Pyruvate carboxylase deficiency type B has life-threatening signs and symptoms that become apparent shortly after birth. This form of the condition has been reported mostly in Europe, particularly France. Affected infants have severe lactic acidosis, a buildup of ammonia in the blood (hyperammonemia), and liver failure. They experience neurological problems including weak muscle tone (hypotonia), abnormal movements, seizures, and coma. Infants with this form of the condition usually survive for less than 3 months after birth.</p><p>A milder form of pyruvate carboxylase deficiency, sometimes called type C, has also been described. This type is characterized by slightly increased levels of lactic acid in the blood and minimal signs and symptoms affecting the nervous system.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/pyruvate-carboxylase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"pyruvate-carboxylase-deficiency","sourceDocuments":[{"name":"Pyruvate carboxylase deficiency","reviewed":"2006-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:36.850790+00:00","label":"Causes","pageSha256":"0c2bb3265b7a936a953fb5653bbe3f46c5d57d9d6df06353d2a2b2a2f9d4cefd","sourceUrl":"https://medlineplus.gov/genetics/condition/pyruvate-carboxylase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/pyruvate-carboxylase-deficiency"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Pyruvate carboxylase deficiency"},"schemaVersion":1}