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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the PCCA and PCCB genes cause propionic acidemia. These genes provide instructions for making two parts (subunits) of an enzyme called propionyl-CoA carboxylase, which plays a role in the normal breakdown of proteins. Specifically, this enzyme helps process several amino acids, which are the building blocks of proteins. Propionyl-CoA carboxylase also helps break down certain types of fat and cholesterol in the body. Mutations in the PCCA or PCCB gene disrupt the function of the enzyme and prevent the normal breakdown of these molecules. As a result, a substance called propionyl-CoA and other potentially harmful compounds can build up to toxic levels in the body. This buildup damages the brain and nervous system, causing the serious health problems associated with propionic acidemia.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/propionic-acidemia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Propionic acidemia?"},{"bodyHtml":"<p>In most cases, the features of propionic acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death.</p><p>Less commonly, the signs and symptoms of propionic acidemia appear during childhood and may come and go over time. Some affected children experience intellectual disability or delayed development. In children with this later-onset form of the condition, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), fever, or infections.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/propionic-acidemia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"propionic-acidemia","sourceDocuments":[{"name":"Propionic acidemia","reviewed":"2007-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:29.401787+00:00","label":"Causes","pageSha256":"b72630c3df0245dadc09dcbbf81ae67ebb1419e79ffc488e6d00503f08e1a8e3","sourceUrl":"https://medlineplus.gov/genetics/condition/propionic-acidemia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/propionic-acidemia"}],"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":"Propionic acidemia"},"schemaVersion":1}