Phenylketonuria

What is phenylketonuria:

Phenylketonuria is one of the first in 1934 by Dr. Folling at a pair of brothers have been found mentally retarded, because urine contains many benzene acid, named because of phenylketonuria, which has sugar in urine are unrelated to diabetes. The main causes of the disease in the human body will be necessary for the phenylalanine amino acid (phenylalanine) into tyrosine metabolism (typrosine) occurred in the path of the metabolic defects, which led to substantial accumulation of phenylalanine in the body, and then after metabolism by the human body a lot of acid and amphetamine-related metabolite, resulting in brain injury patients.

Such as early treatment of patients will not have a serious mental retardation, because the disease of the brain injuries are caused by progressive in nature, so many asymptomatic newborn infant, at about 3 ~ 4 months or so before the symptoms appear slowly . The symptoms of vomiting, skin and hair color , eczema, growth retardation, urine and body odor Khan has mycophenolate draw bear, tremor and abnormal movements. If only start treatment, the brain nerve has caused irreparable harm to the.

Correct early diagnosis

How the disease before the correct diagnosis and proper treatment are the treatment of phenylketonuria of the most important job. Newborn screening and thus to achieve this goal is the best way. In 73 years in our country begin the implementation of neonatal screening, before that many experts believe that Taiwan has no such patients, screening does not seem necessary, however, facts have proven that indeed the people of the existence of genetic diseases (about 1/30000 ), Prior to this, many patients were misdiagnosed as cerebral palsy, mental retardation has been housed in institutions, failed to receive proper treatment, a great pity.

Why phenylketonuria

Phenylketonuria is a recessive genetic disease, parents of patients with a mutation in the gene, but no clinical symptoms known as carriers. Patients themselves must be at the same time with two mutant genes (by the parents each have a mutated gene) will be the incidence; except close relatives pass extra-marital affairs, there are generally encountered by parents with a mutation probability is not high, so parents often said: "We both have family in the absence of such sick ah! how could give a child this genetic?" But as long as both parents are carriers, then the next viviparous a phenylketonuria (PKU) patients of probability as high as 1 / 4.

Phenylketonuria treatment programs

Regarding the treatment of this disease can be divided into two categories: First, food type, are another type of drug. Food type of illness, was made to cater for sick liver phenylalanine hydride (referred to as PAH) caused by their own shortcomings, its treatment for diet control, that is, foods containing phenylalanine excess food, do not eat, but at nature almost protein-containing food, phenylalanine are high, such as: eggs, meat, fish, beans and so on, both containing amphetamine acid is very high, so neither can eat these things. Even rice, flour and other basic foods, also contain considerable phenylalanine, their intake of these children will also have restrictions, so the inconvenience and pain of life is often not an ordinary person can understand, in order to complement the other body essential amino acids required patients must eat a special phenylalanine-free powdered milk, in order to maintain the body's growth and operation of the high price of such milk powder, non-average family can afford.

As for drug-type patients, which is due to PHA Des BH4 metabolism path is a problem, they can not produce sufficient quantities of BH4 for use PAH. Such patients can be added to the treatment of BH4, but BH4 is also a brain neurotransmitter other path of Des important, because BH4 itself can not be brain barrier and can not reach the brain for the brain to use, so such children from urine side effects to add some great nerve conduction material, such as DOPA (DOPA), 5HTP and so on.

On such patients in clinical'd like to achieve the best control, there are still many questions need to be resolved. Control of this disease has now reached a consensus, which is "life-long control." Early years, there have been many doctors believe that the child control to 6-year-old will be able to relax after the treatment, but later confirmed that these are no longer strictly control the children, often also happen disorders emotional instability and physical and psychological symptoms.

Note the daily life of

For example, when a patient's resistance to the period when young people are often the lot of children do not want to own different peers, while giving up diet therapy and his companions to eat the same food, causing a lot of acts on the deviation, more Some patients at this time, unfortunately, if the pregnancy will have a very serious abuse of the deformity, this is our genetic metabolic physician Branch do not want to see things very much, we do not want to be hard to come back to save the children, again by injury, or to allow society to pay a higher price. So how do we help these children, know them, give them timely encouragement and support to enable them to tide over the difficulties of Enron, which we are looking forward to the Center; because these patients to eat food are extremely limited, and the special milk special taste, it is hard to swallow.

However, this disease has already developed a lot of low-phenylalanine foods for PKU patients to use, but do not even have a domestic manufacturer is willing to import these products, because too few patients and low profits, not to mention the overwhelming majority of The home also can not afford the cost of these special food, in the absence of some food to eat, it is hoped that these patients can have a good control of their diet, it is a bit imposing.