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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Propionic acidemia


Other Names for this Disease
  • Glycinemia, ketotic
  • Hyperglycinemia with ketoacidosis and leukopenia
  • Ketotic glycinemia
  • Ketotic hyperglycinemia
  • PCC deficiency
More Names
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Symptoms


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What are the signs and symptoms of propionic acidemia?

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. 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.[1]
Last updated: 12/23/2010

References
  1. Propionic acidemia. Genetics Home Reference. July 2007; http://ghr.nlm.nih.gov/condition/propionic-acidemia. Accessed 3/30/2011.