This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
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
