[Neonatal form of isovaleric acidemia. Apropos of a new case].
The case reported concerns a 18 day-old girl who was hospitalized for severe toxemia. The nauseous smell, and significant ketonuria led us to suspect a disorder in amino-acids metabolism. Diagnosis was proven by gas chromatography. With adequate diet, evolution was favourable and the child had a normal psycho-motor development.
D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy; D004044:Dietary Proteins / Q000008:administration & dosage; D005260:Female; D045782:Hemiterpenes; D006801:Humans; D007231:Infant, Newborn; D007930:Leucine / Q000378:metabolism*; D010421:Pentanoic Acids / Q000097:blood*; D013997:Time Factors; D014631:Valerates / Q000097:blood*
D004044:Dietary Proteins; D045782:Hemiterpenes; D010421:Pentanoic Acids; D014631:Valerates; C008216:isovaleric acid; D007930:Leucine
Forme néo-natale de l'acidémie isovalérique. A propos d'une nouvelle observation.