ABCA3 Deficiency: Neonatal Respiratory Failure and Interstitial Lung Disease

Research output: Contribution to journalReview articlepeer-review


ABCA3 is a member of the ATP Binding Cassette family of proteins, transporters that hydrolyze ATP in order to move substrates across biological membranes. Mutations in the gene encoding ABCA3 have been found in children with severe neonatal respiratory disease and older children with some forms of interstitial lung disease. This review summarizes current knowledge concerning clinical, genetic, and pathologic features of the lung disease associated with mutations in the ABCA3 gene, and also briefly reviews some other forms of childhood interstitial lung diseases that have their antecedents in the neonatal period and may also have a genetic basis.

Original languageEnglish (US)
Pages (from-to)327-334
Number of pages8
JournalSeminars in Perinatology
Issue number6
StatePublished - Dec 2006


  • cellular interstitial pneumonitis
  • chronic pneumonitis of infancy
  • desquamative interstitial pneumonitis
  • newborn
  • persistent pulmonary hypertension of the newborn
  • pulmonary alveolar proteinosis
  • pulmonary surfactant
  • respiratory distress syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynecology


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