LESSONS FROM THE LATE DIAGNOSIS OF ISOVALERIC ACIDEMIA IN A 5-YEAR-OLD BOY

Citation
Kc. Mehta et al., LESSONS FROM THE LATE DIAGNOSIS OF ISOVALERIC ACIDEMIA IN A 5-YEAR-OLD BOY, The Journal of pediatrics, 129(2), 1996, pp. 309-310
Citations number
6
Categorie Soggetti
Pediatrics
Journal title
ISSN journal
00223476
Volume
129
Issue
2
Year of publication
1996
Pages
309 - 310
Database
ISI
SICI code
0022-3476(1996)129:2<309:LFTLDO>2.0.ZU;2-Y
Abstract
Chronic, intermittent isovaleric acidemia was undiagnosed in a boy wit h an increased anion gap metabolic acidosis until the boy was 5 years of age, This case emphasizes the importance of maintaining a high inde x of suspicion for inborn errors of metabolism in patients with metabo lic acidosis, even in late childhood.