Case presentation: A two-week-old male infant presented with slight irritability and poor feeding. The patient also had elevated plasma amino acid levels of leucine. Due to this, he was admitted to the hospital, where he was noticeably irritable, hypertonic, drowsy, and had a high-pitched cry. The patient did not demonstrate any signs of overt obtundation or emesis. Physical examination: The patient had stable vitals.
Laboratory testing: Biochemistry tests revealed metabolic acidosis (serum HCO 3 = 14 mmol/L) along with ketosis (urine ketones >80 mg/dL). The patient also had mild hyperammonemia (serum NH 3 = 83 µmol/L). The results of the MRI are shown in the cover image. *This Clinical Case Challenge is from the Editorial team of Docplexus and is meant for educational purposes only.
