Innate errors of metabolism, such as maple syrup urine disease, are mortal diseases or with several sequels if the optimal treatment fail to achieve in a short time. Diagnostic depend of a clinical compatible with many diseases. We present a case of a 8 days old neonate that is admitted with no specific clinical of sepsis and after, for a clinical suspect, a metabolic screening was made, finding high levels of specific amino acids for maple syrup urine disease. A review of this disease was carried, reinforced in the clinical suspicion as clew for the specific diagnostico
Downloads
Download data is not yet available.
References
Meneghello J, et al. PEDIATRíA, Meneghello. yo edición. Editorial Médica Panamericana, S.A. Argentina. 1997, capítulos 343 y 350.
Behrman, et al.. Nelson Textbook of Pediatrics. Sixteenth Edition. W. B. Saunders Company. U.S.A. 2000, cap. 82.6.
Chuang D. MSUD: It has com3 a long way. J. Pediatrics. 1998, 132: 17-23.
Nyhan WI. Trea.tment of the acute crisis in maple syrup urine disease. Arch Pediatr Adolesc Med. 1998 Jun; 152(6): 593-8.
Wendel U. Liver transplantation in maple syrup urine disease. Eur J Pediatr. 1999 Dec; 158 S60-4.
Goodman S, Greene C. Metabolic Disorders of the Newborn. Ped in review. 1994, 15(9): 13-26.
American Academy of Pediatrics Committee on Genetics. Newborn screening fact sheets. Pediatrics. 1989; 83: 449-64.
