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Acidemia, Propionic

Abstract

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Synonyms of Acidemia, Propionic

  • Hyperglycinemia with Ketoacidosis and Lactic Acidosis, Propionic Type
  • Ketotic Glycinemia
  • PCC Deficiency
  • Propionyl CoA Carboxylase Deficiency

Disorder Subdivisions

  • Propionic Acidemia, Type II (PCCB Deficiency)
  • Propionic Acidemia, Type I (PCCA Deficiency)

General Discussion

Propionic Acidemia is a rare metabolic disorder characterized by deficiency of propionyl CoA carboxylase, an enzyme involved in the breakdown (catabolism) of the chemical "building blocks" (amino acids) of certain proteins. Symptoms most commonly become apparent during the first weeks of life and may include abnormally diminished muscle tone (hypotonia), poor feeding, vomiting, listlessness (lethargy), excessive loss of fluids from bodily tissues (dehydration), and episodes of uncontrolled electrical activity in the brain (seizures). Without appropriate treatment, coma and potentially life-threatening complications may result. In rare cases, the condition may become apparent later during infancy and may be associated with less severe symptoms and findings. Propionic Acidemia is inherited as an autosomal recessive trait.

Organizations related to Acidemia, Propionic

NORD offers an online community for this rare disease. RareConnect was created by EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders) to provide a safe space where individuals and families affected by rare diseases can connect with each other, share vital experiences, and find helpful information and resources. You can view these international, rare disease communities at www.rareconnect.org.

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