phu.pptx phenyle ketonuria cogenital error

inborn error metabolism disorder

1. Causes Of Phenylketonuria PKU is an inherited disorder caused by a defect in the PAH gene and this gene aids production of the enzyme phenylalanine hydroxylase responsible for breaking down phenylalanine. A very high accumulation of phenylalanine can happen when a person eats protein-rich foods like eggs and meat. However, only when both parents pass on a defective version of the PHA gene to their offspring, then the child inherits this disorder. If one parent passes on an altered gene, the child wouldn’t show any symptoms but will be a carrier of the gene .

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3. Diagnosis Newborn screening helps to identify all cases of phenylketonuria . Most countries routinely screen babies for PKU. If you have a family history of it or health care provider may suggest screening tests before pregnancy or birth. Also, it’s possible to determine PKU carriers through blood work.

4. Testing Baby After Birth PKU screening is done a day or two after the baby’s birth. For precise results, the test is performed after 24 hours of the baby's birth and after the baby has been breastfed. A lab technician collects a few drops of blood from the baby’s heel.

5. Goal of treatment   limits the intake of phenylamine -rich foods. Nutritional supplement is provided to ensure that the person gets an adequate amount of essential protein and other nutrients required for normal growth and health.

6. G6PD deficiency is when the body is missing or doesn't have enough of an enzyme called G6PD (glucose-6-phosphate dehydrogenase ). This enzyme helps red blood cells work correctly. A lack of this enzyme can cause hemolytic anemia. This is when the red blood cells break down faster than they normally would.