3 结果
The presence of free benzoic acid in the urine of a patient with non-ketotic hyperglycinemia was demonstrated to be due to a urinary tract infection with beta-streptococci (group B), and was eliminated by treatment with Penicillin G. In addition, the continuous excretion of p-hydroxyphenylacetic
This study investigated the hematologic abnormalities of an infant with propionic acidemia and reversible pancytopenia. Light and electron microscopy of her bone marrow revealed severely disturbed cellular morphology with trilineage dysmyelopoiesis, hemophagocytosis, and numerous multinucleated
The activities of mitochondrial, cytosolic and microsomal enzymes in liver specimens obtained from three patients with propionic or methylmalonic acidemia were compared with those of control patients who had died from unrelated causes. Only the activity of cytochrome oxidase (mitochondrial enzyme)