Description

Glucose-6-Phospate dehydrogenase (G6PD) deficiency may present as neonatal hyperbilirubinemia.


Patient selection: neonatal hyperbilirubinemia

 

Clinical features may include:

(1) family history of G6PD deficiency

(2) hemolytic anemia

(3) onset after exposure to methanol (in powder used to treat the umbilical cord) or a drug that can trigger hemolysis in G6PD deficiency (icterogenic agents)

(4) exclusion of other causes of hyperbilirubinemia (negative direct antiglobulin test, etc)

 

Testing:

(1) deficient enzyme activity on red blood cell testing

(2) endogenous production of carbon monoxide (an index of heme catabolism)

 

Complications:

(1) bilirubin-induced neurologic dysfunction


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