A 3-week-old breastfed neonate presents with a scaly, erythematous rash around the eyes, mouth, and perineum, along with alopecia, hypotonia, and a new-onset seizure. Metabolic workup reveals lactic acidosis and mild hyperammonemia. Which disorder, included on the routine newborn screen, is most likely responsible for this presentation?
A newborn develops poor feeding, vomiting, and lethargy in the first days of life, with metabolic acidosis, an elevated anion gap, and hyperammonemia. A distinctive “sweaty feet” odor is noted on physical exam. What is the most likely diagnosis?
A 3-month-old with hepatomegaly, hypotonia, and fasting ketotic hypoglycemia has improved with continuous feeds. What is the main purpose of continuous feeds in this disorder?
A 4-year-old boy presents with coarse facial features, hepatosplenomegaly, joint stiffness, frequent respiratory infections, and increasing developmental delay. What group of disorders is most likely?