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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 ...
- ... 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 ...
- ... disorders. About half of children with this severe disorder die in infancy or early childhood due to severe lactic acidosis or liver failure. Many of those who survive develop signs and symptoms later in life of a related disorder called Kearns-Sayre syndrome. This condition causes weakness ...