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CLINICAL AND BIOCHEMICAL‐GENETIC ASPECTS OF INTERMITTENT BRANCHED‐CHAIN KETOACIDURIA
Author(s) -
GOEDDE H. W.,
LANGENBECK U.,
BRACKERTZ D.,
KELLER W.,
ROKKONES T.,
HALVORSEN S.,
KIIL RAGNHILD,
MERTON BRITA
Publication year - 1970
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.1651-2227.1970.tb15519.x
Subject(s) - medicine , norwegian , genetic disorder , pediatrics , disease , philosophy , linguistics
Summary Intermittent branched‐chain ketoaciduria was detected in two Norwegian families. All three patients had normal intelligence. One died during an acute acidotic attack at the age of 8 years. The biochemical and clinical data in the two families suggest a separate variant of branched chain ketoaciduria. Possible mechanisms of genetic heterogeneity in this disorder are discussed.