Glucose-6-phosphate dehydrogenase deficiency
G6PDD

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Description from OMIM

Glucose-6-phosphate dehydrogenase (G6PD; {EC 1.1.1.49) plays a key role in the production of ribose 5-phosphate and the generation of NADPH in the hexose monophosphate pathway. Because this pathway is the only NADPH-generation process in mature red cells, which lack the citric adid cycle, a genetic deficiency of G6PD (300908) is often associated with adverse physiologic effects (summary by Takizawa et al., 1986).



Prevalence of clinical parameters (%)







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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Anemia circulatory 100 % 7110809 2012-07-27
Dark urine urinary 29 % 7110809 2012-07-27
Jaundice integumentary 15 % 22459229 2012-07-27



List of references:


Severe hemolytic anemia in black children with glucose-6-phosphate dehydrogenase deficiency.
K Shannon, G R Buchanan,

The clinical spectrum of hemolytic anemia as a consequence of oxidant stress in black children deficient in erythrocyte glucose-6-phosphate dehydrogenase (G-6-PD) has not been well described in the pediatric literature. During a 3 1/2-year period 14 hospitalized black G-6-PD-deficient children with moderate to severe hemolytic reactions were studied. The vast majority (13/14) were boys and were less than 3 years of age. Nine of the patients required blood transfusion. Eleven of the 14 episodes occurred with infection (five bacterial, six viral); those children with viral syndromes tended to have more severe hemolysis. Naphthalene was responsible for three episodes, but oxidant drugs were implicated in no instances. Findings on the blood smears of most subjects included irregular dense misshapen erythrocytes with asymmetrical distribution of hemoglobin and an adjacent membrane-bound clear zone ("eccentrocytes"). It is concluded that hemolytic reactions in the black G-6-PD-deficient child may be severe, are most commonly associated with infection, and are frequently characterized by distinctive erythrocyte morphology.

Pediatrics - Sep 1982



Glucose-6-phosphate dehydrogenase deficiency and borderline deficiency: association with neonatal hyperbilirubinemia.
Arieh Riskin, Neta Gery, Amir Kugelman, Miri Hemo, Irina Spevak, David Bader,

To characterize the occurrence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and its association with neonatal hyperbilirubinemia.

The Journal of pediatrics - Aug 2012