In phenylketonuria, the patient has a defective enzyme in the l-phenylalanine pathway, pku guidelines which prevents the normal conversion of l-phenylalanine to tyrosine and causes a large accumulation of tyrosine in the body.
Phenylketonuria can be screened for during pregnancy and is included as one of the mandatory prenatal tests during pregnancy.
Phenylalanine is used in the body to synthesize proteins and as a substance for thyroid hormones and adrenaline. Many patients with phenylketonuria have growth retardation if they are not treated in time.
In general, people with phenylketonuria have lower-than-normal IQs and can be significantly different from normal infants at four to nine months of age.
The difference between the IQ and the IQ of a normal infant can be significant at four to nine months of age. Most people with phenylketonuria have very dry skin and are prone to eczema, which can easily lead to scratches if the skin is slightly scratched.
People with phenylketonuria have an inhibition of the enzyme tyrosinase, which causes the breakdown of melanin synthesis in the body and in many cases causes their hair to turn light brown.
Phenylketonuria is a congenital disorder that is difficult to treat in most people, and people with phenylketonuria do not show any abnormalities in the early stages.
The disease is often misdiagnosed and must be treated as early as possible, and the younger the age of treatment, the better the outcome.
Related Hot Topic
Is PKU a handicap?
This Blue Book includes a description of the phenylketonuria ailment in paragraph C of Section 10.00. But a diagnosis of PKU alone does not entitle a person to Social Security disability benefits because the severity of PKU cases varies from person to person.
Can PKU brain damage be reversed?
However, we now know that high blood Phe levels can be harmful at any stage of development, and thus PKU must be controlled for life. The brain never totally stops evolving. Even those who have not been managing their PKU for several years may show an improvement in some symptoms if they return to management.
PKU could emerge later in life.
This example demonstrates that disability may not manifest until adulthood, despite the fact that untreated phenylketonuria is often linked to significant neurological dysfunction starting in early childhood.