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Glucose-6-Phosphate Dehydrogenase Deficiency

G6PD Deficiency


Presentation

  • G6PD assay show marked decrease in enzyme level at time of presentation in all cases with the commonest G6PD enzyme level of 3-4 U/gm Hb (592 patients; 59.2%).[ncbi.nlm.nih.gov]
  • The authors present the optical coherence tomography angiographic findings in a case of a 19-year-old male with FP and glucose-6-phosphate dehydrogenase (G6PD) deficiency.[ncbi.nlm.nih.gov]
  • To present a case of acute brucellosis triggering acute hemolytic anemia in a subject with glucose-6-phosphate dehydrogenase (G6PD) deficiency. A 17-year-old male patient presented with fever, malaise and jaundice.[ncbi.nlm.nih.gov]
  • The case report profiled a 35-year-old African-American man with G6PD deficiency who presented with a rapid progression of recurrent priapism episodes. He was outwardly healthy and did not have sickle cell disease or trait by hematologic screening.[ncbi.nlm.nih.gov]
  • However, metabolic mapping is the oldest cytochemical approach to localize activity of specific enzymes, but in the last decades of the previous century and the first decade of the present century it almost became obsolete.[ncbi.nlm.nih.gov]
Anemia
  • The anemia that results is a nonspherocytic hemolytic anemia. See also congenital nonspherocytic hemolytic anemia, favism.[medical-dictionary.thefreedictionary.com]
  • Furthermore, anemia was found to be associated with β-thalassemia trait in 11 children. These data can be useful for providing appropriate prevention and control of anemia in this region of Thailand.[ncbi.nlm.nih.gov]
  • His response to antibiotic therapy was optimal; the hemolytic anemia resolved. There were no further episodes of hemolysis.[ncbi.nlm.nih.gov]
  • We describe an 8 year-old Sicilian boy who suffered from hemolytic anemia some days after admission for DM1.[ncbi.nlm.nih.gov]
  • The evolution was marked by a respiratory distress syndrome, a severe hemolytic anemia, associated with thrombocytopenia and kidney failure.[ncbi.nlm.nih.gov]
Fatigue
  • The patient was admitted to hospital with fatigue, shortness of breath and jaundice lasting for 2 days. Laboratory tests were consistent with haemolysis and inflammation. The patient was treated as having a mycoplasma pneumonia.[ncbi.nlm.nih.gov]
  • In the acute phase, pyrexia, severe general fatigue, lumbar back pain, hemoglobinuria, and jaundice developed. Laboratory blood examinations showed hemolysis, and remarkable increases in serum ferritin and cytosol leucine aminopeptidase levels.[ncbi.nlm.nih.gov]
  • Reaction to these drugs vary according to variant and other conditions, such as fatigue, stress level, altitude, etc. Please consult with your pediatrician or physician before taking any of these.[g6pd.org]
  • . · Pallor · Fatigue · Tachycardia –quick heart rate · Yellow skin · Shortness of breath · Dark colored urine Incidence and Carriers Disease frequency: 400 million people worldwide. approximately 50% of Kurdish males, 30% of Sardinia males, and 13% of[mazornet.com]
  • A 46-year-old African-American man with a recent diagnosis of multiple myeloma and renal insufficiency was admitted to the hospital with a cough, hemoptysis, and fatigue.[ncbi.nlm.nih.gov]
Pallor
  • Patients presented mainly with pallor (1000 patients; 100%), dark red urine (896 patients; 89.6%) and jaundice (878 patients; 87.8%) after 24-72 hours of exposure to the precipitating factors (mean: 36 17.73 hours).[ncbi.nlm.nih.gov]
  • . · Pallor · Fatigue · Tachycardia –quick heart rate · Yellow skin · Shortness of breath · Dark colored urine Incidence and Carriers Disease frequency: 400 million people worldwide. approximately 50% of Kurdish males, 30% of Sardinia males, and 13% of[mazornet.com]
  • Clinical presentation includes cyanosis, pallor, methemoglobin levels of 8-12%, and oxygen saturation gap which is evident from ABG analysis, though pulse oximetry is normal.[ncbi.nlm.nih.gov]
  • Pallor, fatigue, general deterioration of physical conditions. Heavy, fast breathing. Weak, rapid pulse. However, research also links G6PDD to diabetes, cardiovascular disease, hypertension, cardiac failure and neurological issues.[integrativemedicalresearch.wordpress.com]
  • Within 24 hours he developed increasing pallor (Hb 41 g/l, haematocrit 12.4%, SBR 98 μmol/l, LDH 827 U/l), tachycardia, and poor peripheral perfusion. After transfusion his jaundice subsided, and his Hb remained stable.[doi.org]
Abdominal Pain
  • The patient experienced abdominal pain and acute hypotension 10 minutes after diagnostic hysteroscopy. We attributed this event to the exposure of her genital mucosa caused by the hysteroscopic chemical disinfectant.[ncbi.nlm.nih.gov]
  • Symptoms of acute hemolysis associated with G6PD deficiency include anemia, fatigue, back or abdominal pain, jaundice, and hemoglobinuria.[ncbi.nlm.nih.gov]
  • pain localized to the right upper quadrant area of his abdomen.[osmosis.org]
  • Recurring hemolytic crises may occur, especially following triggers Arises within 2–3 days after increased oxidative stress Sudden onset of bac k or abdominal pain Jaundice Dark urine Transient splenomegaly Recurrent severe infections causing symptoms[amboss.com]
  • pain and jaundice secondary to a rise in unconjugated bilirubi n ( Table 5 21 ).[aafp.org]
Nausea
  • Nausea, abdominal pain and diarrhea may develop. Vomiting only occurs rarely. Within 6 to 24 hours, urine may become noticeably dark and can appear red, brown or even black.[rarediseases.org]
  • An attack by P. vivax causes agonising daily paroxysms often accompanied by intractable nausea and vomiting, headache, myalgia and profound asthenia. 21 Anstey NM, Douglas NM, Poespoprodjo JR, Price RN.[doi.org]
Upper Abdominal Pain
  • CASE REPORT A 35-year-old man with no history of alcoholism or liver disease presented with low grade fever, upper abdominal pain, fatigue and loss of appetite for eight to 10 days.[ncbi.nlm.nih.gov]
Vascular Disease
  • Metabolism gained interest as player in chronic and complex diseases such as cancer, diabetes, neurodegenerative diseases, and vascular diseases and both enzyme cytochemistry and metabolic mapping have become important tools in life sciences.In this chapter[ncbi.nlm.nih.gov]
Malocclusion
  • Maxillary hypoplasia, deep palatal vault, anterior open bite, crowding of the dental arch, severely delayed tooth eruption, and dental malocclusion are the main oral manifestations of this syndrome.[ncbi.nlm.nih.gov]
Jaundice
  • Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest enzyme disorder of human beings and a globally important cause of neonatal jaundice, which can lead to kernicterus and death or spastic cerebral palsy.[ncbi.nlm.nih.gov]
  • G6PD deficiency is found to one important cause of neonatal jaundice developing on day 2 onwards.[ncbi.nlm.nih.gov]
  • It is important that clinicians consider this condition when a patient presents following a paracetamol overdose with significant and disproportionate jaundice, without transaminitis or coagulopathy.[ncbi.nlm.nih.gov]
  • In the acute phase, pyrexia, severe general fatigue, lumbar back pain, hemoglobinuria, and jaundice developed. Laboratory blood examinations showed hemolysis, and remarkable increases in serum ferritin and cytosol leucine aminopeptidase levels.[ncbi.nlm.nih.gov]
  • He appeared with scleral jaundice and very deep colored urine after receiving pharmacological doses ascorbic acid infusion.[ncbi.nlm.nih.gov]
Normal Hearing
  • Follow up at three months showed no residual jaundice, no sign of kernicterus, normal hearing, Hb 100 g/l, reticulocytes 3.9%.[doi.org]
Hyperhidrosis
  • Abstract Transaxillary endoscopic sympathectomy of thoracic ganglia (T2-T3) has recently gained wider acceptance as the treatment of choice for palmar hyperhidrosis. It requires one-lung ventilation to facilitate the surgery.[ncbi.nlm.nih.gov]
Genu Valgum
  • A 49-year-old patient had undergone varum osteotomy in her left knee due to genu valgum. She had been diagnosed as having G6PDH deficiency sixteen years earlier provoked by ingesting beans.[ncbi.nlm.nih.gov]
Forgetful
  • Don't forget to sign our Guestbook ! E-MAIL ABOUT THE AUTHOR ACKNOWLEDGEMENTS[web.archive.org]
Stroke
  • No effects of G6PD molecular deficiency on clinical ischemic stroke or high-risk TCD were detected. The mean G6PD activity was similar in children who had clinical ischemic stroke and in those without stroke.[ncbi.nlm.nih.gov]
Dark Urine
  • His major complaint was preceded, in sequence, by a temperature of 102 F (38.9 C), dark urine,[jamanetwork.com]
  • This type of anemia leads to paleness, yellowing of the skin and whites of the eyes ( jaundice ), dark urine, fatigue , shortness of breath, and a rapid heart rate.[medicinenet.com]
  • Symptoms during a hemolytic episode may include dark urine, fatigue, paleness, rapid heart rate, shortness of breath, and yellowing of the skin ( jaundice ).[rarediseases.info.nih.gov]
  • Recurring hemolytic crises may occur, especially following triggers Arises within 2–3 days after increased oxidative stress Sudden onset of bac k or abdominal pain Jaundice Dark urine Transient splenomegaly Recurrent severe infections causing symptoms[amboss.com]
  • Symptoms are more common in men and may include: Dark urine Fever Pain in abdomen Enlarged spleen and liver Fatigue Pallor Rapid heart rate Shortness of breath Yellow skin color ( jaundice ) Treatment Treatment may involve: Medicines to treat an infection[mountsinai.org]
Kidney Failure
  • The evolution was marked by a respiratory distress syndrome, a severe hemolytic anemia, associated with thrombocytopenia and kidney failure.[ncbi.nlm.nih.gov]
  • In rare case, kidney failure or death may occur following a severe hemolytic event. Call your health care provider if you have symptoms of this condition.[nlm.nih.gov]
  • If a severe hemolytic event occurs and is not treated, kidney failure or death can occur. But this is very rare.[explainmedicine.com]
  • Possible Complications In rare case, kidney failure or death may occur following a severe hemolytic event. When to Contact a Medical Professional Call your health care provider if you have symptoms of this condition.[mountsinai.org]
Red Urine
  • Patients presented mainly with pallor (1000 patients; 100%), dark red urine (896 patients; 89.6%) and jaundice (878 patients; 87.8%) after 24-72 hours of exposure to the precipitating factors (mean: 36 17.73 hours).[ncbi.nlm.nih.gov]
  • Within 48 hours he passed red urine, became pale and jaundiced, and vomited; he was brought to hospital after two further days.[doi.org]
Hot Flushes
  • Except for hot flushes, the patient lives without remarkable side effects from ongoing or previous treatments.[ncbi.nlm.nih.gov]

Workup

Anisopoikilocytosis
  • The peripheral blood smear showed polychromasia, anisopoikilocytosis and reticulocytosis (the reticulocyte count was 14.6%). Urine was positive for hemoglobinuria.[ncbi.nlm.nih.gov]
Hyperviscosity
  • Several possible mechanisms exist to explain this association, including hyperviscosity, direct endothelial dysfunction secondary to bare hemoglobin vasculotoxicity, and relative nitric oxide deficiency causing vasoconstriction and vascular smooth muscle[ncbi.nlm.nih.gov]
Normocytic Normochromic Anemia
  • There was normocytic normochromic anemia with reticulocytosis and Heinz bodies in pre-transfusion complete blood picture in all studied cases.[ncbi.nlm.nih.gov]
Liver Biopsy
  • Urinary coproporphyrin levels, along with compatible liver biopsy, confirmed the diagnosis of Dubin-Johnson disease.[ncbi.nlm.nih.gov]

Treatment

  • The patient underwent adjuvant radiotherapy; meanwhile, tamoxifen was administered as adjuvant endocrine treatment. The treatment process was smooth. There was no evidence of hemolytic anemia.[ncbi.nlm.nih.gov]
  • In this paper, we report a case series of five patients with G6PD deficiency receiving PCI with drug-eluting stents (DES) and treatment with dual antiplatelet therapy (DAPT) containing low-dose aspirin, without clinical complications.[ncbi.nlm.nih.gov]
  • The blind administration of daily primaquine is dangerous, but so too are the relapses invited by withholding treatment. Absent G6PD screening, providers must choose between risking harm by the parasite or its treatment.[ncbi.nlm.nih.gov]
  • Neonatal hyperbilirubinemia may require treatment with phototherapy or exchange transfusion to prevent kernicterus.[ncbi.nlm.nih.gov]
  • We present a case of a 53-year-old white male who developed hemolytic anemia after the initiation of treatment with metformin 500 mg twice daily.[ncbi.nlm.nih.gov]

Prognosis

  • Current evidence suggests that PVB19-associated HLH has a favorable prognosis. Mild undiagnosed cases of HLH may be the cause of pancytopenia in PVB19 infections.[ncbi.nlm.nih.gov]
  • Links: drugs to avoid in G6PD deficiency clinical features investigations treatment and prognosis[gpnotebook.co.uk]
  • Prognosis The prognosis for almost everyone with G6PD deficiency is excellent. Large studies have shown that G6PD-deficient individuals do not acquire any illnesses more frequently than the rest of the population.[medical-dictionary.thefreedictionary.com]
  • Pallor Rapid heart rate Shortness of breath Yellow skin color ( jaundice ) Treatment Treatment may involve: Medicines to treat an infection, if present Stopping any drugs that are causing red blood cell destruction Transfusions, in some cases Outlook (Prognosis[mountsinai.org]
  • Complications and prognosis Most people with G6PD deficiency have a normal life expectancy despite a predisposition to neonatal jaundice and sensitivity to certain drugs.[patient.info]

Etiology

  • Often the etiology is idiopathic. Three cases of priapism in glucose-6-phosphate dehydrogenase (G6PD) deficiency patients have been described in literature.[ncbi.nlm.nih.gov]
  • Stuttering priapism is an uncommon form of recurrent priapism whose etiology if often unknown. To date, there has been one report of a patient with stuttering priapism and glucose-6-phosphate dehydrogenase (G6PD) deficiency.[ncbi.nlm.nih.gov]
  • Etiology of hemolysis in two patients with hepatitis A infection: glucose-6-phosphate dehydrogenase deficiency or autoimmune hemolytic anemia. Eur J Pediatr. 2008 Dec. 167(12):1435-9. [Medline].[emedicine.com]
  • Role of hepatitis E and other hepatotropic virus in etiology of sporadic acute viral hepatitis: A hospital based study from urban Delhi. Eur J Epidemiol 2000; 16 :937-40. [ PubMed ] [ Google Scholar ] 2. Choudhury VP, Bagga A, Desai N.[ncbi.nlm.nih.gov]

Epidemiology

  • […] analysis/complications/diagnosis/epidemiology; mass screening; military medicine; retrospective studies; risk assessment; risk factors[ncbi.nlm.nih.gov]
  • Author information 1 Department of Epidemiology and Demography, KEMRI-Wellcome Trust Research Programme, Kilifi, Kenya. 2 Department of Epidemiology and Demography, KEMRI-Wellcome Trust Research Programme, Kilifi, Kenya; Wellcome Trust Centre for Human[ncbi.nlm.nih.gov]
  • Epidemiological data suggest that glucose-6-phosphate dehydrogenase (G6PD) deficiency may be a risk factor for diabetes. Also, the occurrence of haemolysis in the context of diabetes crises has been reported in patients with G6PD deficiency.[ncbi.nlm.nih.gov]
  • Abstract Emerging epidemiological evidence suggests that patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency may have a higher risk of developing diabetes.[ncbi.nlm.nih.gov]
  • Epidemiology G6PD deficiency is the most common human enzyme deficiency.[amboss.com]
Sex distribution
Age distribution

Pathophysiology

  • The medical condition generates a pathophysiologic milieu consistent with aberrant NO signaling and heightened oxidative stress in the penis.[ncbi.nlm.nih.gov]
  • We discuss the pathophysiology of severe methemoglobinemia when associated with acute hemolysis, favism, and the common African G6PD A-variant [G6PD, VAL68MET, ASN126ASP].[ncbi.nlm.nih.gov]
  • In this report, the pathophysiology of G6PD deficiency, the effects of hemolytic anemia, and factors that contribute to frostbite will be discussed, as well as the clinical findings, treatment course, and the outcome of this case.[ncbi.nlm.nih.gov]
  • The pathophysiology of G6PD deficiency and its potential to cause priapism is reviewed. A case report is described of a 29-year-old African-American man with G6PD deficiency who presented with numerous episodes of recurrent ischemic priapism.[ncbi.nlm.nih.gov]
  • Here we discuss the link of rasburicase with methemoglobinemia and the pathophysiology behind increased incidence of this side effect in G6PD deficient patients.[ncbi.nlm.nih.gov]

Prevention

  • The complications of G6PD deficiency can largely be prevented by education and information, and neonatal jaundice can be successfully treated by phototherapy, a cheap and simple approach suitable for use in primary health care.[ncbi.nlm.nih.gov]
  • Defective NET formation has thus far been only observed in patients with the NADPH oxidase deficiency chronic granulomatous disease, who require antibiotic and antimycotic prophylaxis to prevent life-threatening bacterial and fungal infections.[ncbi.nlm.nih.gov]
  • These data can be useful for providing appropriate prevention and control of anemia in this region of Thailand.[ncbi.nlm.nih.gov]
  • Preventive treatments were applied, and subsequently, the patient was taken to long-term follow up.[ncbi.nlm.nih.gov]
  • To prevent renal damage, plasmapheresis with fresh frozen plasma was done to clear bilirubin and plasma hemoglobin. The hyperbilirubinemia responded to plasmapheresis.[ncbi.nlm.nih.gov]

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