Inborn Diseases

Inborn Diseases

There are many disease considered to be inborn errors of metamorphosis due to a lack of a particular enzyme. This deficient biological catalyst tummy have many personal effects on a person. Some of these diseases are Ga milk sugarmia, Phenylketonuria (PKU), lactose Intolerance, and Maple Syrup Urine disease (MSUD).

GALACTOSEMIA

Classic Galactosemia is a rare communicable metabolic dis coif. The child with classic consciousness sugarmia inherits a gene for galactosemia from twain parents, who are carriers. Normally when a person consumes a reaping that stands lactose (eg dairy products such as milk, cheese, butter) the torso breaks the lactose down into galactose and glucose. Glucose is the sugar used by the body for energy. Galactosemia means too much galactose is in the stock caused by the individual missing the enzyme (known as GALTA) to convert galactose into glucose. This accumulation of galactose is a poison to the body and can cause serious complications such as an enlarged liver, kidney failure, cataract, and brain damage. If untreated, as high as 75% of infants will die.

Diagnoisis is do usually within the first week of life by blood test from a heel prick as part of a standrad newborn screening. Treatment requires the strict elimination of lactose/galactose from the diet.



Although galactosemic children are started on diet labour at birth, there continues to be a high incidence of long term complications involving speech and language, fine and gross move skill delays and specific learning disabilities. Ovarian failure whitethorn occur in girls. Prenatal diagnosis by amniocentesis is also available.

Treatment is based on elimination of galactose from the diet. This may be done in the early neonatal arrest by stopping breast feeding and by the administratin of diets which contain no lactose or galactose, (Nutramigen, Pregestimil). This diet should be compulsively followed, and continued for years,

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