Males and females are effected with equal frequency. However, the factors which lead to multisystem diseases are unknown. Early problems include failure to thrive, feeding problems and recurrent infections. These occasionally lead to death. Diagnosis is generally made in the first few years of life, although occasionally diagnosis is delayed.
Stools contain an excessive amount of fat and are foul smelling and greasy in appearance.
Improvement in stools are seen after enzymes replacement therapy is begun. Although weight gain is noted, growth does not seem to improve. Some older patients are able to discontinue enzyme replacement with no clinical consequences. As a result of dysfunction of the bone marrow, patients may have a decrease in any or all types of blood cells. Blood cell counts should be monitored regularly.