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Hemolytic Anemia due to a Disorder of Glycolytic Enzymes

Hemolytic Anemia due to Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency


  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • In early childhood, patients will present with hepatomegaly, hypoglycemia and ketotosis.[cancertherapyadvisor.com]
  • The numbered bands specify the location of the thousands of genes that are present on each chromosome.[rarediseases.org]
  • PKR is the form of pyruvate kinase that is present in red blood cells. Mutations in PKR cause failures in red blood cell glycolysis, which lead to a disease known as pyruvate kinase deficiency, or PK deficiency.[agios.com]
  • The majority of cases are found during childhood, but some who are mildly affected may not be detected until late adulthood: Gallstones occasionally present in childhood, but usually after the first decade of life.[patient.info]
  • Related phenotypes are splenomegaly and abnormality of metabolism/homeostasis OMIM : 58 Hexokinase deficiency is an autosomal recessive disorder characterized by early-onset severe hemolytic anemia (summary by van Wijk et al., 2003). (235700) UniProtKB[malacards.org]
  • Chronic icterus, gallstones and splenomegaly are common findings. Etiology Erythrocyte PK deficiency is caused by mutations in the PKLR gene (1q22). To date, more than 190 mutations in PKLR have been reported.[orpha.net]
  • Pyrimidine-5′-nucleotidase deficiency, an enzymopathy of nucleotide metabolism, is characterized by intracellular accumulations of pyrimidine-containing nucleotides, marked basophilic stippling on the stained blood film, splenomegaly, and hemolysis.[annals.org]
  • The lysed red blood cells lead to jaundice, splenomegaly, and a hemolytic anemia.[wohproject.org]
  • Symptoms of PKD include: Low count of healthy red blood cells ( anemia ) Swelling of the spleen ( splenomegaly ) Yellow color of the skin, mucous membranes, or white part of the eyes ( jaundice ) Neurologic condition, called kernicterus, that affects[medlineplus.gov]
Hemophilia A
  • Hemophilia A (Factor VIII Deficiency) Hemophilia X-Linked Recessive. Factor VIII deficiency Hemorrhage, hematuria, hemarthroses. Prolonged PTT. Hemophilia B (Factor IX Deficiency) Hemophilia X-Linked Recessive. Factor IX deficiency.[kumc.edu]
  • Shen specializes in treating bleeding and blood-clotting (coagulation) disorders such as hemophilia, von Willebrand disease, thrombosis, and hemostasis (slow or stopped blood flow). A UT Southwestern Medical Center faculty member since 2004, Dr.[profiles.utsouthwestern.edu]
  • As a result of splenectomy, reticulocyte counts often increase and transfusion needs are reduced. Bone marrow transplantation can cure PK deficiency but is rarely performed.[orpha.net]
  • Removing the spleen ( splenectomy ) may help reduce the destruction of red blood cells. But, this does not help in all cases. In newborns with a dangerous level of jaundice, the provider may recommend an exchange transfusion.[medlineplus.gov]
  • Ancillary treatments and support: Splenectomy may be beneficial in cases with severe anemia. Specialists and specialty centers: Hematologist, Pediatrician.[wohproject.org]
  • Peripheral blood smear in a child with splenectomy and pyruvate kinase deficiency. Isoenzymes Pyruvate kinase exists as 4 isoenzymes.[emedicine.medscape.com]
  • Endocrinologists, biochemists, pharmacologists, physicians, physiologists and medical students will find the book invaluable.[books.google.de]
  • *Medscape Business of Medicine Academy Survey, September 2015 Learn from Experienced Professionals Courses were developed especially for physicians by business health experts and experienced physicians.[medscape.org]
  • Shen is a nonmalignant hematologic disorders specialist, a physician who focuses on evaluating and treating noncancerous blood disorders.[profiles.utsouthwestern.edu]
  • A number of laboratory testing methods can be requested by a physician to determine if a person has PK deficiency.[agios.com]
  • American Family Physician. vol. Volume 72. October 1, 2005. Chan, TK.[clinicaladvisor.com]
  • Red blood cell transfusion may be necessary if the haemoglobin value falls significantly. Some transfusion-dependent patients have benefited from splenectomy.[patient.info]
  • They also complained of dizziness and nausea and would fall asleep easily. They would lack the energy to do their work, and some would start to pass blood in the urine.[innvista.com]
Down Syndrome
  • Second most common cause of mental retardation next to Down Syndrome. Macro-orchidism (enlarged testes) in males.[kumc.edu]
Neonatal Jaundice
  • Clinical description Clinically, PK-deficient patients suffer from a highly variable degree of chronic hemolysis, ranging from severe neonatal jaundice and fatal anemia at birth, severe transfusion-dependent chronic hemolysis, moderate hemolysis with[orpha.net]
  • Neonatal hyperbilirubinemia with kernicterus is rarely seen, with neonatal jaundice typically occurring on days 4-7. The mechanism is not completely understood.[clinicaladvisor.com]
  • (liver disease) or hereditary (ornithine transcarbamoylase deficiency) Excess NH4 depletes α-ketoglutarate, leading to inhibition of the TCA cycle - treated with benzoate or phenylbutyrate to lower serum ammonia levels Ammonia intoxication leads to tremor[quizlet.com]
  • This impairment leads to muscle weakness and wasting (atrophy) and causes the movement problems typical of triosephosphate isomerase deficiency, including involuntary muscle tensing (dystonia), tremors, and weak muscle tone (hypotonia).[icdlist.com]
  • Phenylketonuria (PKU) Nitrogen Metabolism Defect Autosomal Recessive.[kumc.edu]


Normocytic Anemia
  • Normocytic anemia with neutropenia. Short stature, microcephaly, hypogenitalism, strabismus, anomalies of the thumbs, radii, and kidneys, mental retardation, and microphthalmia. Hartnup's Disease Autosomal Recessive.[kumc.edu]


  • Management and treatment The mainstay of treatment is blood transfusion and, in severe cases, splenectomy. The latter should be based on the patient's ability to tolerate the anemia.[orpha.net]
  • Treatment may include red cell transfusions for those with severe anemia.[malacards.org]
  • Treatment: Most affected individuals do not require treatment but severe untreated disease in infants can be lethal in the first year of life. Blood transfusions may be needed in severe anemia.[wohproject.org]
  • Hematology: Diagnosis and Treatment. Elsevier Health Sciences. ISBN 978-1455776887. Baroncian, Luciano (1994). "Prenatal Diagnosis of Pyruvate Kinase Deficiency" (PDF). Blood. Retrieved 12 November 2015.[en.wikipedia.org]
  • Treatment of PK deficiency is supportive, including blood transfusions, splenectomy, chelation therapy to address iron overload and/or interventions for other disease-related morbidity.[agios.com]


  • Prognosis Prognosis is variable depending on the severity of the anemia, but as in other chronic hemolytic disorders, gallstones and iron overload may develop, requiring appropriate treatment.[orpha.net]
  • Prognosis: The prognosis of PKD is highly variable depending on the genotype. Early diagnosis and intervention with treatment of the anemia can be lifesaving in severe cases. Individuals with a mild form of PKD may have few or no symptoms.[wohproject.org]
  • Prognosis The prognosis of PKD is extremely variable. Early intervention and treatment of symptoms frequently improves the individual's health. Without treatment, individuals may experience severe complications that may become lethal.[medical-dictionary.thefreedictionary.com]
  • Prognosis Morbidity and mortality correlate with disease severity and are usually the result of complications.[patient.info]
  • […] features Pallor, fatigue, weakness Cyanosis of the extremities ( acrocyanosis ) Diagnosis Signs of hemolysis Peripheral blood smear : spherocytes, polychromasia Coombs test : positive Cold agglutinins titer C3 and C4 ; (due to complement activation) Prognosis[amboss.com]


  • Etiology Erythrocyte PK deficiency is caused by mutations in the PKLR gene (1q22). To date, more than 190 mutations in PKLR have been reported.[orpha.net]
  • Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10coded.com]
  • Enzyme defects Glucose-6-phosphate dehydrogenase deficiency Pyruvate kinase deficiency Pathophysiology : autosomal recessive defect of pyruvate kinase Etiology : : Glucose is the only energy source for RBCs.[amboss.com]
  • Currently, there is no approved medicine to address the underlying etiology of life-long hemolytic anemia. If you have been diagnosed with PK deficiency, talk to your doctor to determine the best options for you.[agios.com]
  • Ongoing controversies regarding etiology, diagnosis, treatment The antioxidant properties of Vitamin E have not consistently been shown to provide benefit in the reduction of hemolysis. Copyright 2017, 2013 Decision Support in Medicine, LLC.[clinicaladvisor.com]


  • Summary Epidemiology PK deficiency is the most frequent cause of congenital nonspherocytic hemolytic anemia with a prevalence estimated at 1/20,000 in the general white population.[orpha.net]
  • Gene hemolytic anemia including type I with a reduced activity of HK1,found in RBC,lymphocytes,platelets,fibroblats,type II with a decreased activity restricted to RBC Relevant External Links for HK1 Genetic Association Database (GAD) HK1 Human Genome Epidemiology[genecards.org]
  • This means that affected individuals have an increased capacity to release oxygen into the tissues, enhancing oxygen delivery. [ 2 ] Epidemiology Pyruvate kinase deficiency (PKD) occurs worldwide but most cases have been reported in northern Europe, Japan[patient.info]
Sex distribution
Age distribution


  • TY - JOUR T1 - Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis.[unboundmedicine.com]
  • Enzyme defects Glucose-6-phosphate dehydrogenase deficiency Pyruvate kinase deficiency Pathophysiology : autosomal recessive defect of pyruvate kinase Etiology : : Glucose is the only energy source for RBCs.[amboss.com]
  • Pathophysiology The main source of metabolic energy within the red cell comes from glucose which is metabolized through the glycolytic pathway and through the hexose monophospate shunt.[clinicaladvisor.com]
  • Pathophysiology The liver and muscles are most affected by disorders of glycogen metabolism.[cancertherapyadvisor.com]
  • The copper has been reported to be most effective in inhibiting hexokinase and hence glycolysis of rat brain extract, suggesting pathophysiological importance in copper poisoning and in WD ( 29 ).[nature.com]


  • Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis of Alcohol 0% Unclassified 100% Metabolism[medicbind.com]
  • They also should receive preventive antibiotics until age 5. The outcome varies. Some people have few or no symptoms. Others have severe symptoms. Treatment can usually make symptoms less severe. Gallstones are a common problem.[medlineplus.gov]
  • In preparation for his tour of duty, he is given a prophylactic dose of primaquine to prevent malaria. Several days after he begins taking the drug, he develops fatigue and hemolytic anemia. Which of the following enzymes is likely deficient? A.[usmle.biochemistryformedics.com]
  • Splenomegaly can occur within 6 months and splenectomy prevents further anemia. Genetics: This is an autosomal recessive disorder caused by mutations of the PKLR gene located on chromosome 1 (1q21).[wohproject.org]
  • In inflammation, the upregulated hepcidin prevents iron absorption, whereas, in iron deficiency anemia, a down-regulated hepcidin allows iron to be absorbed.[emedicine.medscape.com]

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