3 resultaten
In a case of dihydrolipoyl dehydrogenase deficiency, there was not only an elevation of lactate and alpha-ketoglutarate but also of branched chain amino acids. The levels of branched-chain amino acids varied from the normal range to three times the upper limit of normal during the patient's
An 11-year old girl with spastic paraplegia and mental retardation has suffered from attacks of metabolic acidosis since the age of 18 months. "Ketotic hyperglycinemia" was diagnosed when she was 3 years old. Reinvestigation at 9 1/2 years included a two-day load with L-isoleucine, and propionyl-CoA
A 6-month-old female infant with hypotonia and keto and lactic acidosis was diagnosed with lipoamide dehydrogenase (E3) deficiency. This enzyme is a component of the pyruvate, alpha-ketoglutarate, and branched chain alpha-ketoacid dehydrogenase complexes. At the time of diagnosis her plasma