Diagnosis of isovaleric acidemia in cultured fibroblasts.
D000138:Acidosis / Q000378:metabolism; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism; D002250:Carbon Radioisotopes; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007930:Leucine / Q000378:metabolism*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012867:Skin / Q000378:metabolism; D014631:Valerates / Q000378:metabolism
D002250:Carbon Radioisotopes; D014631:Valerates; D007930:Leucine