Abstract Background: Hypoxanthine–guanine phosphoribosyltransferase (HPRT) deficiency, an X-linked disorder of purine metabolism, is infrequently diagnosed in early infancy due to its nonspecific clinical manifestations. Clinical Description: We report a 42-day-old male infant, who presented with irritability, respiratory distress, and poor feeding. The infant, born with a birth weight of 2750 g, had a weight of 3200 g at presentation with tachypnea and minimal subcostal and intercostal retractions. He was irritable but consolable, and his neurological examination was essentially normal. Management and Outcome: Investigations revealed severe metabolic acidosis, deranged kidney function, markedly elevated serum uric acid (35 mg/dL), and transaminitis with ultrasound of the abdomen and kidneys showing normal-sized kidneys with bilateral medullary nephrocalcinosis. Kidney biopsy showed acute tubular injury with uric acid crystal deposition. Whole-exome sequencing identified a hemizygous likely pathogenic missense variant in the HPRT1 gene, confirming Kelley–Seegmiller syndrome, a partial form of HPRT deficiency. The infant improved with supportive care and urate-lowering therapy with allopurinol and is now on follow-up. Conclusion: Although infrequent, HPRT1-associated hyperuricemia should be considered in the differential diagnosis of an infant with impaired kidney function associated with hyperuricemia and metabolic acidosis. Prompt renal biopsy combined with genetic analysis is crucial for establishing an accurate diagnosis, optimizing treatment strategies, and providing appropriate genetic counseling.
Gautam et al. (Wed,) studied this question.