lesson 7.1 Inborn errors of metabolism

lesson 7.1 Inborn errors of metabolism - Pyruvate kinase...

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Pyruvate kinase (PK) deficiency: This is the next most common red cell enzymopathy after G6PD deficiency, but is rare . It is inherited in a autosomal recessive pattern and is the commonest cause of the so-called "c ongenital non-spherocytic haemolytic anaemias " (CNSHA). PK catalyses the conversion of phosphoenolpyruvate to pyruvate with the gene ration of ATP. Inadequate ATP generation lead s to premature red cell death. There is considerable variation in the severity of haemolysis. Most patients are anaemic or jau
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Hereditary hemolytic anemia
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Blood film: PK deficiency: Characteristic "prickle cells" may be
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Drug induced hemolytic anemia
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Glycogen storage disease
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Case Description A female baby was delivered normally after an uncomplicated pregnancy. At the time of the infant’s second immunization, she became fussy and was seen by a pediatrician, where examination revealed an enlarged liver. The baby was referred to a gastroenterologist and later diagnosed to have Glycogen Storage Disease Type IIIB
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Glycogenoses Disorder Affected Tissue Enzyme Inheritance Gene Chromosome Type 0 Liver Glycogen synthase AR GYS2 [125] 12p12.2 [121] Type IA Liver, kidney, intestine Glucose-6-phosphatase G6PC [96] 17q21 [13][94] Type IB Liver Glucose-6-phosphate transporter (T1) G6PTI [57] [104] 11q23 [2][81][104] [155] Type IC Liver
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lesson 7.1 Inborn errors of metabolism - Pyruvate kinase...

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