What are the signs and symptoms of glucose-6-phosphate dehydrogenase (G6PD) deficiency in neonates?

Updated: Jun 25, 2020
  • Author: Lawrence C Wolfe, MD; Chief Editor: George T Griffing, MD  more...
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Answer

G6PD deficiency is one of the major risk factors for severe neonatal jaundice. [10] Jaundice usually appears within first 24 hours of life, usually earlier than physiologic jaundice but later compared to jaundice seen in blood group alloimmunization.   

Jaundice can be very severe in some G6PD-deficient babies, especially in association with prematurity, infection, and/or environmental factors (such as naphthalene-camphor balls used in babies' bedding and clothing). Coexistence of a mutation in the uridyl transferase gene (UGT1A1; the same mutations are associated with the Gilbert syndrome) can also exacerbate neonatal jaundice. [18]

Hazardous hyperbilirubinemia defined as a total serum bilirubin greater than 30 mg/dL is a rare event, occurring in 5 per 100 000 live births after universal bilirubin screening. G6PD deficiency is the leading cause of hazardous hyperbilirubinemia when an etiology is identified. [35]  A retrospective study evaluating neonates readmitted to the hospital for hyperbilirubinemia indicated G6PD deficiency to be the most frequent and severe risk factor for hyperbilirubinemia in regions where prevalence of the deficiency is high. [36]

Some G6PD-deficient neonates, if undiagnosed soon after birth, could present later in the first week of life with generalized jaundice, poor feeding, lethargy, breathing difficulty, or seizures. If inadequately managed, neonatal jaundice associated with G6PD deficiency can produce kernicterus or bilirubin encephalopathy and permanent neurologic damage. [28, 29, 30, 26, 31, 18]


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