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Surfactant Metabolism Dysfunction Type 3 (SMDP3)

Surfactant Metabolism Dysfunction Type 3 (SMDP3)

OMIM number: 610921

Comments closing date: 06/02/2019

Pulmonary Surfactant Metabolism Dysfunction affects babies shortly after birth and is usually fatal in the first few months or year of life. It is a recessive condition affecting the lungs. Pulmonary surfactant is a unique mixture of lipids and proteins that reduces surface tension at the air liquid interface, preventing collapse of the lung at the end of expiration.

Several genes encode surfactant proteins, and this application is concerning the gene ABCA3. Dysfunctions of surfactant metabolism lead to severe respiratory distress (breathing difficulties) in the neonatal period. Artificial respiration may be used but the condition is rapidly progressive and this is usually lethal in infancy. As this is a recessive condition, couples who are both carriers have a 1 in 4 chance of having an affected child in each pregnancy conceived. There is no cure and treatment is palliative.

Review date: 9 January 2021