Isovaleric acidemia diagnosed promptly by tandem mass spectrometry: report of one case.
Isovaleric acidemia (IVA), a recessive autosomal disorder, is caused by isovaleryl-CoA dehydrogenase deficiency. Isovaleric acidemia may present with symptoms during the acute stage of severe metabolic acidosis, ketosis, vomiting and altered mental status. This report concerns a 2-month-old female infant diagnosed as isovaleric acidemia by tandem mass spectrometry. She presented with two episodes of vomiting, poor activity and pancytopenia without obvious metabolic acidosis and hyperammonemia. She received combined therapy of L-carnitine, glycine and low protein and leucine diet. Hemogram and serum isovalerylcarnitine (IVC) were measured during the treatment. The depressed leukocyte and platelets recovered when serum isovalerylcarnitine level increased.
Wei
Chang-Ching
CC
Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan.
Lin
Wei-De
WD
Tsai
Fuu-Jen
FJ
Wu
Jer-Yuarn
JY
Peng
Ching-Tien
CT
Tsai
Chang-Hai
CH
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000628:therapy; D002331:Carnitine / Q000627:therapeutic use; D018753:Diet, Protein-Restricted; D005260:Female; D005998:Glycine / Q000627:therapeutic use; D045782:Hemiterpenes; D006801:Humans; D007223:Infant; D050769:Isovaleryl-CoA Dehydrogenase; D013058:Mass Spectrometry / Q000379:methods; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000172:deficiency / Q000378:metabolism; D010421:Pentanoic Acids / Q000097:blood* / Q000378:metabolism; D016896:Treatment Outcome
D045782:Hemiterpenes; D010421:Pentanoic Acids; C008216:isovaleric acid; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050769:Isovaleryl-CoA Dehydrogenase; D002331:Carnitine; D005998:Glycine