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.
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.
Menahem
S
S
Department of Cardiology, Royal Children's Hospital, Melbourne, Australia.
Adams
A
A
D000138:Acidosis / Q000201:enzymology / Q000209:etiology*; D015318:Fructose Metabolism, Inborn Errors / Q000150:complications* / Q000378:metabolism*; D015319:Fructose-1,6-Diphosphatase Deficiency / Q000378:metabolism*; D005634:Fructose-Bisphosphate Aldolase / Q000172:deficiency*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011666:Pulmonary Valve Stenosis / Q000150:complications*; D013577:Syndrome
D005634:Fructose-Bisphosphate Aldolase