Acute neonatal isovaleric acidemia. A report of two cases.
Two fatal cases of the fulminant type of isovaleric acidemia are described. Attention is drawn to the existence of two forms of the disease, the severe "Newman" type, occurring in the first week of life and the milder "Tanaka" type, with a later onset. The importance of ruling out isovaleric acidemia in any newborn infant with acidosis is emphasized.
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis*; D007930:Leucine / Q000378:metabolism*; D008297:Male; D010375:Pedigree; D014631:Valerates / Q000378:metabolism*
D014631:Valerates; D007930:Leucine