[Isovaleric acidemia. Study and treatment in 3 brothers].
The cases of 3 sibs presenting with isovaleric acidemia are reported. The first infant died when he was 9 day-old. The two others appear to have benefited from a controlled leucine diet which was introduced from the first days on of life. The clinical symptomatology, highly typical of the disease, is described. Diagnosis was not assessed on amino-acids chromatography but on the chromatography of volatile fatty acids. The mode of treatment is described: peritoneal dialysis, with the object of rounding a crucial cape, and overall controlled leucine diet, but supplemented by essential amino-acids.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D000596:Amino Acids / Q000627:therapeutic use; D005232:Fatty Acids, Volatile / Q000032:analysis; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007930:Leucine / Q000378:metabolism* / Q000627:therapeutic use; D008297:Male; D010088:Oxidoreductases / Q000172:deficiency*; D010530:Peritoneal Dialysis; D013542:Sweat / Q000032:analysis; D014631:Valerates
D000596:Amino Acids; D005232:Fatty Acids, Volatile; D014631:Valerates; D010088:Oxidoreductases; D007930:Leucine
Acidémie isovalérique. Etude et traitement chez trois freres