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Anemia due to enzyme disorder
- ... result, not enough normal glucose-6-phosphate dehydrogenase enzyme is produced, leading to hemolytic anemia and other signs and symptoms of ... GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD ...
- ... Registry: Pyruvate kinase deficiency of red cells Hemolytic anemia due to red cell pyruvate kinase deficiency National Organization for Rare Disorders (NORD) ClinicalTrials.gov ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 2; ...
- ... glucose phosphate isomerase deficiency Genetic Testing Registry: Hemolytic anemia due to glucophosphate isomerase deficiency Glucosephosphate isomerase deficiency National Organization for Rare Disorders (NORD) ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 4; CNSHA4 PubMed ...
- ... Registry: Classic homocystinuria Genetic Testing Registry: Homocystinuria-megaloblastic anemia cblD type ... ClinicalTrials.gov HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA- ...
- ... condition. Deficiency of phosphotriose isomerase Hereditary nonspherocytic hemolytic anemia due to ... PubMed Aissa K, ...
- ... some features of phosphoglycerate kinase deficiency, such as anemia. A characteristic of X-linked inheritance is that fathers cannot ... kinase 1 deficiency Glycogen storage disease ...
- ... skin rash, unusually small red blood cells (microcytic anemia), and liver problems. ... gene provides instructions for making the enzyme steroid 5 alpha-reductase 3, which facilitates the ...
- ... chance of developing myelodysplastic syndrome (MDS) and aplastic anemia, which are ... is to produce enzymes that help break down and use nutrients from ...
- ... exposure to certain environmental factors can trigger the disease. More About This ... parts of the telomerase enzyme may account for the absence of these features. ...
- ... prematurely, causing a shortage of red blood cells (anemia). People with the hemolytic form of ... one piece (the PFKM subunit) of an enzyme called phosphofructokinase, which plays a role in the ...