A 10-year-old girl is noted on a routine physical examination to have splenomegaly. Laboratory testing reveals thrombocytopenia and moderate edema, and she is referred to a hematologist for further evaluation. Bone marrow aspiration is performed and reveals the presence of Gaucher cells. When discussing therapeutic options with the parents of this child, it would be most appropriate to include which of the following statements?

A 10-year-old girl is noted on a routine physical examination to have splenomegaly. Laboratory testing reveals thrombocytopenia and moderate edema, and she is referred to a hematologist for further evaluation. Bone marrow aspiration is performed and reveals the presence of Gaucher cells. When discussing therapeutic options with the parents of this child, it would be most appropriate to include which of the following statements?

Matching: Hemizygotic male has complete syndrome

A 1-week-old infant presents with poor feeding, vomiting, lethargy, and opisthotonus posturing. The critical impression is meningitis, but all cultures are negative. Seizures occur and hypoglycemia is documented; however, the seizures do not stop after the hypoglycemia is corrected with intravenous glucose. The arterial blood gas is 7.10 PCO2 23, PO2 90, with an anion gap of 35. A CT scan demonstrates cerebral edema. The most likely etiology is

Matching: Dietary biotin deficiency

A 5-day-old infant manifests tachypnea, poor feeding, vomiting, and decreased responsiveness. A sepsis workup is performed, and the child is started on a D10W infusion and receives ampicillin and cefotaxime. The condition worsens, and the child becomes unresponsive to stimuli. All cultures are negative after 48 hours. The arterial blood gas is 7.45, PCO2 36, PO2 100, the anion gap is normal, the blood glucose is 75 mg/dL, and serum ammonia is 500 μM. The most likely diagnosis is