Integumentary Disease: Phenylketonuria
Skin diseases vary from case to case, whether it is a common case or a rare case, like phenylketonuria. Phenylketonuria, otherwise known as PKU, is a rare genetic disease that is caused by a negative body affliction causing inability to metabolize the amino acid phenylalanine. The disease can cause Mental health issues as well as others because of the excess of phenylalanine in the body. When phenylalanine is not broken down and turned in a different amino acid, called tyrosine, it can create other enzyme routes that build up in the bloodstream and in body tissue. This is EXTREMLY harmful to both the body and the development of it. This disease is caused by missing enzyme phenylalanine hydroxylase, an …show more content…
Most cases reported have occurred when this enzyme is deficient and the body's amount of phenylalanine is slightly higher than usual in the circulatory system. This is called Hyperphenylalaninemia. This is a separate variation of the original PKU. But back to regular PKU, this occurs almost immediately when a child is born. Although appearing nearly completely normal, the child can have blue eyes and fairer skin than the rest of his family. If unidentifiable the child can gain symptoms quickly. The untreated newborn will begin to suffer from symptoms such as, vomiting, irritability, eczema like rashes, and a horrible odor in their urine, as well as nervous system problems.increased muscle tone, and very active tendon reflexes occur from these problems. Very soon after they develop mental issues. These issues include mental retardation and seizures as well as others. Other identifications are: a smaller head than usual; prominent cheek and upper jaw bones; and widely spread teeth; as well as poor enamel development; with decreased body growth. However how PKU is transferred to the child is through a “autosomal recessive” trait from their mother or father. This means a person may have one of the genes for the disease, however, if they have the others dominant gene
Skin diseases vary from case to case, whether it is a common case or a rare case, like phenylketonuria. Phenylketonuria, otherwise known as PKU, is a rare genetic disease that is caused by a negative body affliction causing inability to metabolize the amino acid phenylalanine. The disease can cause Mental health issues as well as others because of the excess of phenylalanine in the body. When phenylalanine is not broken down and turned in a different amino acid, called tyrosine, it can create other enzyme routes that build up in the bloodstream and in body tissue. This is EXTREMLY harmful to both the body and the development of it. This disease is caused by missing enzyme phenylalanine hydroxylase, an …show more content…
Most cases reported have occurred when this enzyme is deficient and the body's amount of phenylalanine is slightly higher than usual in the circulatory system. This is called Hyperphenylalaninemia. This is a separate variation of the original PKU. But back to regular PKU, this occurs almost immediately when a child is born. Although appearing nearly completely normal, the child can have blue eyes and fairer skin than the rest of his family. If unidentifiable the child can gain symptoms quickly. The untreated newborn will begin to suffer from symptoms such as, vomiting, irritability, eczema like rashes, and a horrible odor in their urine, as well as nervous system problems.increased muscle tone, and very active tendon reflexes occur from these problems. Very soon after they develop mental issues. These issues include mental retardation and seizures as well as others. Other identifications are: a smaller head than usual; prominent cheek and upper jaw bones; and widely spread teeth; as well as poor enamel development; with decreased body growth. However how PKU is transferred to the child is through a “autosomal recessive” trait from their mother or father. This means a person may have one of the genes for the disease, however, if they have the others dominant gene