Severe Acidosis in a Neonate with Pulmonary Valve Stenosis: A Possible Stress Inducer of a Fatal Syndrome of Fructose-1,6-Biphosphatase and Aldolase Deficiency

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Abstract
A neonate is described whose clinical condition rapidly and irreversibly deteriorated on day two. He developed a profound acidosis, hypoglycaemia and a shock-like syndrome. The infant was centrally cyanosed and had a systolic murmur from a moderately severe pulmonary valve stenosis and a small atrial septal defect. The overwhelming acidosis was inconsistent with the severity of the congenital heart defects and as no infection was found a metabolic cause was sought. Liver tissue obtained at autopsy shortly after death on day four, showed deficiencies of fructose-1, 6-biphosphatase and aldolase.