TY - JOUR
T1 - Hyperglycinemia and propionyl CoA carboxylase deficiency and episodic severe illness without consistent ketosis
AU - Wadlington, William B.
AU - Kilroy, A. nthony
AU - Ando, Toshiyuki
AU - Sweetman, Lawrence
AU - Nyhan, William L.
N1 - Copyright:
Copyright 2014 Elsevier B.V., All rights reserved.
PY - 1975/5
Y1 - 1975/5
N2 - Propionyl CoA carboxylase deficiency was found in a 7-month-old boy who presented with attacks of vomiting,anorexia, weight loss, weakness, and hypotonia. He failed to thrive and had generalized seizures. He had propionic acidemia and hyperglycinemia; these are the manifestations of the ketotic hyperglycinemia syndrome. However, ketonuria was not a consistent part of his clinical picture, and he had at least two episodes of acute overwhelming illness, the latter one fatal, in which ketones were never found in the urine. Large amounts of pyrrolidone carboxylic acid were found in body fluids.
AB - Propionyl CoA carboxylase deficiency was found in a 7-month-old boy who presented with attacks of vomiting,anorexia, weight loss, weakness, and hypotonia. He failed to thrive and had generalized seizures. He had propionic acidemia and hyperglycinemia; these are the manifestations of the ketotic hyperglycinemia syndrome. However, ketonuria was not a consistent part of his clinical picture, and he had at least two episodes of acute overwhelming illness, the latter one fatal, in which ketones were never found in the urine. Large amounts of pyrrolidone carboxylic acid were found in body fluids.
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U2 - 10.1016/S0022-3476(75)80354-4
DO - 10.1016/S0022-3476(75)80354-4
M3 - Article
C2 - 1133651
AN - SCOPUS:0016705750
SN - 0022-3476
VL - 86
SP - 707
EP - 712
JO - The Journal of pediatrics
JF - The Journal of pediatrics
IS - 5
ER -