Hereditary Tyrosinemia Compounded With Hyperinsulinemic Hypoglycemia: Challenging Diagnosis of a Rare Case
Hereditary tyrosinemia type 1 (HT-1) is a rare autosomal recessive disorder caused by a deficiency in the enzyme fumarylacetoacetate hydrolase (FAH), which catalyzes the final step in the tyrosine degradation pathway. Hereditary tyrosinemia is a heterogeneous disease with a wide spectrum of clinical manifestations involving hepatic, renal, or nervous systems. It has grave consequences if left untreated. Some of the late complications of hereditary tyrosinemia include cirrhosis, liver nodules, hepatocellular carcinoma, hypophosphatemic rickets, nephrocalcinosis, glomerulosclerosis, and chronic renal failure. Rarely, infants with hereditary tyrosinemia may present with persistent hypoglycemia, which may be a result of acute liver failure or hyperinsulinism. Hyperinsulinemic hypoglycemia (HH), caused by dysregulation of insulin secretion from pancreatic β-cells, leads to insulin driven glucose entry into the tissues and inhibits glycolysis, gluconeogenesis, fatty acid release, and ketone body synthesis. Hyperinsulinemic hypoglycemia can cause severe, persistent hypoketotic hypoglycemia. Diagnosing tyrosinemia type 1 can be a challenge as it is a heterogeneous disorder with a wide variety of clinical manifestations and complications. We herein report a rare case of a three-day-old male neonate with HT-1 compounded with HH.