J. Brismar

TL;DR: The acidosis of this enzyme deficiency progresses rapidly, leading to cardiopulmonary arrest and death within hours of onset unless treated promptlyunless treated promptly, in four surviving infants diagnosed and treated early.

TL;DR: Over the last 5 years the Pediatric Neurology service at King Faisal Specialist Hospital and Research Centre (KFSH&RC) has seen 131 infants and children with movement disorders, 37% of which had identifiable biochemical defects, 25 of which were organic acidemias.

TL;DR: 3-Ketothiolase deficiency manifests with intermittent acidosis and is due to deficiency of mitochondrial 2-methylacetoacetate thiolase and can occur as an organic acidemia associated with encephalopathy.

TL;DR: Five infants from 3 families, one Egyptian, two Yemeni, are described with a progressive encephalopathy, four of whom have been studied in detail, which is not responsive to treatment with riboflavin, ascorbic acid, vitamin E, glycine, or carnitine.

TL;DR: The administration of vigabatrine rapidly reduced the excretion of 4-hydroxybutyric acid promptly, and in the long-term its excretion could be kept at 80-200 times that of normal, however, the clinical course of the disease improved in only two, remained the same in two, and worsened in the remaining two patients.