Fructosuria

 https://masterniyasmedicalbiochemistry.blogspot.com/2023/11/fructosuria.html

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Glycated hemoglobin

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Phenylketonuria (PKU) is a genetic disorder characterized by the inability to metabolize phenylalanine, an amino acid found in many protein-containing foods.  Clinical manifestations include intellectual disability, developmental delays, seizures, and behavioral issues. If untreated, elevated phenylalanine levels can lead to severe neurological problems.  Early detection through newborn screening and dietary management are crucial for better outcomes. In Phenylketonuria (PKU), the key enzyme affected is phenylalanine hydroxylase, responsible for converting phenylalanine to tyrosine. Diagnosis involves newborn screening, measuring elevated phenylalanine levels in blood. Treatment primarily focuses on a phenylalanine-restricted diet, low in protein, and supplemented with special formula.  Monitoring phenylalanine levels is crucial, and some individuals may require lifelong adherence to the diet to prevent intellectual and developmental issues.  Enzyme replacement thera...
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