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Pyruvate Dehydrogenase Deficiency
Acquired from Thiamine Deficiency
Backup of Alanine and Pyruvate
Symptoms and Complications
Lysine and Leucine (Ketogenic Nutrients)
Deficiency of Aldolase B
Fructose 1-P To DHAP And GA
Accumulation Of Fructose-1-Phosphate
Inhibition Of Glycogenolysis
Inhibition Of Gluconeogenesis
Defect in fructokinase
Fructose to fructose 1-P
Fructose appears in blood and urine
Fructose does not enter cells
Galactose-1-phosphate uridyltransferase is Absent (GALT)
Impaired Galactose-1-P to UDP-Galactose
Galactitol Accumulation in Lens
Signs and Symptoms
Failure to Thrive
Intellectual Disability (Mental retardation)
Increased Risk E. Coli Sepsis
Galactose to Galactose 1P
Galactose Appears in Blood and Urine
Failure to Develop a Social Smile
More Common in Ashkenazi Jewish Population
Signs and Symptoms
Cherry Red Spot on Macula
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