Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome.
A 5-year-old boy had recurrent vomiting and lethargy with lacticacidemia and ketoacidemia since birth. Lipoamide dehydrogenase deficiency was found in muscle and fibroblasts. Therapy with sodium dichloroacetate, thiamine, and carnitine was associated with reduction of the severity and frequency of the decompensation episodes and near normal plasma lactate levels. At 5 years of age, the patient has normal cognitive function and moderate motor impairment.
Elpeleg
O N
ON
Metabolic Unit, Shaare-Zedek Medical Center, Jerusalem, Israel.
Ruitenbeek
W
W
Jakobs
C
C
Barash
V
V
De Vivo
D C
DC
Amir
N
N
D000140:Acidosis, Lactic / Q000150:complications / Q000188:drug therapy / Q000378:metabolism*; D002331:Carnitine / Q000627:therapeutic use; D003999:Dichloroacetic Acid / Q000627:therapeutic use; D008058:Dihydrolipoamide Dehydrogenase / Q000172:deficiency* / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007223:Infant; D007662:Ketosis / Q000150:complications / Q000188:drug therapy / Q000378:metabolism*; D007773:Lactates / Q000097:blood; D008297:Male; D009069:Movement Disorders / Q000209:etiology; D009132:Muscles / Q000378:metabolism; D013831:Thiamine / Q000627:therapeutic use
D007773:Lactates; D003999:Dichloroacetic Acid; D008058:Dihydrolipoamide Dehydrogenase; D002331:Carnitine; D013831:Thiamine