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ENCEPHALOPATHY IN COMBINATION WITH A NEW PATTERN OF AMINOACIDURIA
Author(s) -
BERGE T.,
BORGFORS N.,
BRUN A.,
STUDNITZ W. VON
Publication year - 1969
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.1651-2227.1969.tb04331.x
Subject(s) - medicine , hypoxia (environmental) , encephalopathy , aminoaciduria , endocrinology , amino acid , kidney , unconjugated hyperbilirubinemia , autopsy , glutamine , central nervous system , bilirubin , physiology , urine , pathology , biochemistry , biology , chemistry , organic chemistry , oxygen
Summary A male infant born 5 weeks before calculated term had tachypnoea and peripheral cyanosis and its spontaneous activity was decreased. No sign of anoxia at delivery. The increased serum bilirubin was treated with exchange transfusion and on the 16th day of life the serum bilirubin level was normal. The child gradually developed signs of injury to the central nervous system and amino‐aciduria involving serine, alanine and threonine was discovered. The same amino acids were also found in increased concentrations in the serum. The child died at 38 days of age. Autopsy revealed multiple focal changes in the cerebral hemispheres. The changes consisted of focal necroses of white matter with gliosis and deposition of fat‐containing macrophages. The changes were of the same type as those described previously in certain inborn errors of metabolism but showed no specific features. Similar changes may also be seen in hypoxia, but in the present case there was no evidence for such an origin. No specific amino‐aciduria could be demonstrated at examination of 7 premature children with hypoxia. The kidneys showed no histological abnormalities and the fact that the concentration of the amino acids was increased both in the serum and in the urine argues against a renal origin. No explanation for the aetiology could be offered, but it was probably due to an inborn enzyme defect.