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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
Author(s) -
MENAHEM S.,
ADAMS A.
Publication year - 1989
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1989.tb11151.x
Subject(s) - medicine , cardiology , stenosis , autopsy , aldolase a , shock (circulatory) , acidosis , fructose , enzyme , biochemistry , chemistry
. 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‐l,6‐biphosphatase and aldolase.