After a lot of analysis of their urine, Flynn found a lot of chemical phenylketonuria. After a long period of research, Flynn found that this disease is an autosomal recessive genetic metabolic disease. 1937 This disease is officially named phenylketonuria, or PKU for short. Flynn not only discovered this hereditary family disease, but also found the reason for mental retardation-these sick people ate the food that we normal people ate.
1October 22nd, 2002, 165438+ broke the silence in the morning with a cry. A lovely girl was born in a small family in Cullen, Inner Mongolia. Her arrival brought infinite happiness and hope to the whole family. She weighed more than 7 kg when she was born, and her hair was black and long. Her family named this lovely girl Coco. She loves to laugh and exercise, and of course she has a big appetite. What parents are most proud of is that Coco seems to have a unique musical talent since childhood. For example, when listening to Liang Zhu, she cried as soon as she listened to that song. Finally, two butterflies fly with me, so she stopped crying and looked very happy. However, when happiness begins, misfortune also comes. On February 7, 2003, Ms. Zheng took Coco to the window sill to bask in the sun. As a result, a ray of sunshine outside the window made her discover the secret hidden in Coco. In the sun, Coco had a thick yellow sore on his head, and later he began to appear on his body. Since Keke got eczema, the quiet life of this family of three has been broken, and strange things have happened one after another. Cocoa's original black hair is getting more and more yellow, and cocoa's urine also gives off a pungent smell. In addition, every day, as long as it is midnight or early morning, Coco will suddenly cry and make a scene without warning, as if someone had read a spell, and something in her mind seemed to be viciously interfering, which made her fidgety.
Three-year-old Cocoa's feet are everted and she falters. The doctor suspects that she may be PKU's child.
The couple came to a hospital in Tongliao City, Inner Mongolia with cocoa. A sense of foreboding hung over their hearts, but the final diagnosis made them breathe a sigh of relief. The doctor said that cocoa belongs to night terrors, so just go back and eat some calcium. However, I don't know when to start. Coco, who used to love to laugh, seems to no longer like to communicate with people, and her temper has become very withdrawn. She lost herself in her own world. A year later, a wave of unrest, another wave. The children next door as big as Coco can already run and jump, but Coco, who is close to 3 years old, is still stumbling and tottering. Besides, mom found that her feet were a little everted. If there is something wrong with the child's leg, it will definitely affect his future image. The couple took time off to go to Beijing to see Coco's leg disease. Gu Qiang, a pediatrician attending the clinic, is conducting a bone examination for Cocoa. However, her yellow hair, eczema and special smell made Dr. Gu suspicious. Cocoa's leg was fine, but Dr. Gu decided to give Cocoa another urine test. Because the urine test will take about ten days, the couple didn't wait and went back with their children in their arms. The warm family of three has regained its former tranquility. However, on the third day after returning home, a rush of telephone ringing broke the silence: "The urine test results came out, but the results were somewhat abnormal. We suspect that your child may be PKU's child. Please come back for re-inspection as soon as possible. " Before all the luggage at home was unloaded, the family hurried on the road of seeking medical treatment in Beijing. What is Peking University? What happened to Coco?
PKU's children lack an enzyme in their liver, and home-cooked meals are like arsenic to them.
In protein-containing foods such as rice, flour and meat, there is an amino acid called phenylalanine. For healthy people, it can be normally metabolized by a special enzyme in our liver, converted into essential nutrients for human body and excreted smoothly. However, for PKU children, these foods are as terrible as arsenic. Because the liver of children with PKU lacks such an enzyme, phenylalanine, which should be converted into nutrients at this time, cannot be metabolized normally, while untransformed phenylalanine is harmful to the body. Once it rises to the nervous system, it will cause irreparable damage to the patient's brain tissue, and the patient's intelligence will gradually decline, resulting in pathological features such as yellow hair, eczema, bad temper, uncoordinated movements and slow language. Children who are not treated or treated late, 99% have mental retardation. Without treatment, patients are mentally retarded, and even some people can't take care of themselves at all. From the first bite, phenylalanine, which is toxic to the nervous system, began to accumulate in the blood, and the countdown to killing intelligence began. When the countdown draws to a close, everything will be irreversible. Experts estimate that about 2 1 10,000 newborns are born every year in China, among which about 2,000 children with PKU are born. However, many PKU patients know nothing about their diseases. ...
For PKU, a genetic disease, neonatal disease screening has become the only effective way.
Why can't we stop before the countdown starts? In fact, people with a little medical knowledge know that there are three ways to help us in this situation. First, there is pre-marital examination, then prenatal examination, and then there is neonatal disease screening. For PKU, a special genetic disease, prenatal examination and premarital examination are of little significance because it is caused by a gene, but it is difficult to determine which gene it is. Therefore, neonatal disease screening has become the only effective method. In Peking University Hospital, Dr. Gu, an expert from Peking University, is reviewing cocoa. Sure enough, the content of phenylalanine in cocoa blood is 30 to 40 times the normal standard. There is no doubt that it can be a PKU patient. She must start lifelong diet control at once. All diets containing protein should be controlled, and even rice and white flour can't be eaten casually, so their quality of life is relatively poor. From the day of discovery, cocoa will completely change the past diet structure. With these special foods with phenylalanine extracted, this recipe for children with PKU has become her daily homework. However, no matter how Coco's illness ends, she is still the best hope for the whole family. Cocoa's family of three set foot on their way home. What awaits them will be a long and unknown test. We look forward to getting smarter gradually.