G6PD Deficiency
G6PD is a key enzyme of Pentose Phosphate Cycle
Approximately 400 million people are affected worldwide. Homozygotes and heterozygotes can be symptomatic, although the disease typically is more severe in persons who are homozygous for the deficiency.
The diagnosis of G6PD deficiency is made by:
- a quantitative spectrophotometric analysis
- activity is expressed as uMoles/min/gHb or Cells Count
- heterozigous?
- by a rapid fluorescent spot test detecting the generation of NADPH from NADP.7 The test is positive if the blood spot fails to fluoresce under ultraviolet light.
- In field research, where quick screening of a large number of patients is needed, other tests have been used; however, they require definitive testing to confirm an abnormal result.
- Tests based on polymerase chain reaction detect specific mutations and are used for population screening, family studies, or prenatal diagnosis.
Diagnosis and Management of G6PD Deficiency 2005
Neonatal Screening in Taiwan 1987-2010
prevalence 2% of newborns
