[Isovaleric acidemia combined with hypertrophic pylorstenosis (author's transl)].
A case of isovaleric acidemia combined with hypertrophic pylorostenosis is described. The diagnostic procedure, the biochemical findings as well as the performed therapy are discussed. Additionally the patient was successfully operated upon a pyloromyotomy. Thus the patient suffered form two conditions which are always to be considered in terms of differential diagnosis.
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications*; D006801:Humans; D006984:Hypertrophy; D007223:Infant; D007231:Infant, Newborn; D007930:Leucine / Q000378:metabolism*; D008297:Male; D011707:Pyloric Stenosis / Q000150:complications* / Q000378:metabolism; D014631:Valerates / Q000097:blood
D014631:Valerates; D007930:Leucine
Isovalerianacidämie kombiniert mit hypertrophischer Pylorusstenose.