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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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Overview



What is propionic acidemia?

What are the signs and symptoms of propionic acidemia?


What is propionic acidemia?

Propionic acidemia is an organic acid disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly, and abnormal levels of propionic acid build up in the blood and tissues. The levels are toxic and cause serious health problems. In most cases, the features of propionic acidemia become apparent within a few days after birth and 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. It is caused by mutations in the PCCA and PCCB genes, which provide instructions for making a certain enzyme needed to break down proteins. It is inherited in an autosomal recessive pattern.[1] Treatment is life-long and involves appropriate dietary management (to limit intake of certain amino acids) and addressing symptoms during a metabolic crisis.[2]
Last updated: 3/30/2011

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.
  2. Karl S Roth. Propionic Acidemia (Propionyl CoA Carboxylase Deficiency): Treatment & Medication. eMedicine. September 10, 2009; http://emedicine.medscape.com/article/948084-treatment. Accessed 3/30/2011.