The child was born in a poor family.

"Why... why is this child's hair brown?!"

Zhang Yi's expression was not right.

The little girl's parents were also panicked: "What's wrong, Doctor Zhang? Is light hair the cause of the disease?"

Zhang Yi shook his head: "No, it's not the cause..."

While speaking, Zhang Yi was also thinking silently in his heart.

Light hair color...

Mental retardation...

Why does this symptom look so much like a genetic recessive disease? ?

The next second, Zhang Yi suddenly seemed to think of something, and put his nose close to the girl and sniffed hard.

Sure enough!

She really had that strange smell on her body!

"What's wrong, Doctor Zhang? Don't scare us... What disease does my daughter have?"

Zhang Yi quickly comforted her:

"Don't panic, your daughter's symptoms may be a very rare genetic disease. I'll prescribe a test and you should take your child to get checked."

"What?! Genetic disease?? What disease?? Will she die? Woohoo... My daughter is still so young, Doctor Zhang, please save her!"

The girl's mother was frightened and cried, and immediately knelt down to Zhang Yi with her child in her arms.

Zhang Yi took a look and realized that he couldn't bear it.

He quickly helped the person up and explained:

"Let me put it this way, your daughter currently has epilepsy, right?

The test results you brought also showed that the cause of her epilepsy is cerebellar atrophy.

Why does the cerebellum atrophy?

I currently suspect that it is a relatively rare genetic disease.

Combined with her light hair color and a strange smell on her body.

By the way, don't you usually notice the smell on her body?"

"Smell?"

The girl's mother also smelled it while wondering.

Behind him, the two old men who had been standing suddenly said:

"Yes, I did smell it before, but it was just a strong smell of urine. I thought it was caused by taking medicine every day.

The child was admitted to the hospital for epilepsy not long after birth, and the medicine was almost never stopped.

So I didn't care about the smell... What's wrong?

Is this strong smell also one of the causes?"

Zhang Yi nodded:

"Yes, but not entirely. Let's put it this way, I'm just suspicious at the moment, you go get checked first. Come back and see the results after the checkup."

The girl's mother nodded with tears:

"Then Doctor Zhang, what disease do you suspect my daughter has? Will she die?"

"Phenylketonuria, she won't die, it can be treated with diet and medicine. Don't worry too much, let's check it first, and then come back and see."

"Phenylketonuria? What disease is this?"

"Okay, thank you Doctor Zhang."

The girl's family had never heard of this disease.

After Zhang Yi said it, the whole family seemed to have opened the door to a new world.

Huh?

There is such a disease?

The child's father was the first to react. He thanked Zhang Yi and pulled the other people out of the clinic.

Outside the clinic, the family, who had not yet recovered from the shock, quickly took out their mobile phones and started searching.

"Phenylketonuria? I have never heard of this disease..."

"We are not medical students, so we have definitely never heard of it. Don't worry, Doctor Zhang is just guessing. Can't we just do the examination first and then go to him?"

The family then held the child for the examination and searched Baidu for phenylketonuria.

...

A few hours later, the first patient who came back with the examination report was the patient with toothache.

Zhang Yi looked at him, and saw him walking in with the examination results with a worried look on his face.

"Doctor Zhang, please take a look. Why does this electrocardiogram say that I have myocardial infarction?!"

Even if he doesn't know much about medicine, he can recognize the words myocardial infarction.

This thing can kill people!

Zhang Yi pretended to be surprised and took the examination form. After checking it, he suddenly realized:

"So your toothache is caused by coronary heart disease? No wonder you still have pain symptoms even though you don't have periodontitis."

The uncle was also panicked:

"Then how can I treat this, Doctor Zhang? What is the relationship between coronary heart disease and myocardial infarction? Is this a disease? Do I need to be hospitalized?"

"Don't worry, your current symptoms are relatively mild. You can prescribe drugs for thrombolytic treatment. If you find that the blockage on the coronary artery is cleared after regular check-ups, then there is no need for surgery. If the drug treatment is not effective, you can come to the hospital for interventional surgery."

"Coronary artery atherosclerosis leads to

Myocardial infarction caused by coronary artery is the blood vessel that provides blood and nutrition to the entire myocardium.

If the coronary artery is blocked, does it mean that the myocardium is ischemic? Myocardial ischemia is very serious. Don’t you usually have chest pain? Only toothache? "

The uncle nodded vigorously and said:

"Yes, yes, I have never had chest pain, but I can't find the cause of toothache."

Zhang Yi couldn't help but feel amazing.

It's really rare!

Coronary heart disease has no chest pain but only toothache?

It seems that being a doctor is really a lifelong learning.

Not only should you learn experience from books and operating tables, but sometimes patients are also your teachers.

"Some patients with coronary heart disease do have symptoms of reflex toothache. Don't worry, your symptoms are not serious. I will prescribe medicine for you. You just need to go back and take the medicine on time."

"Really? No need for surgery, just take medicine? ? "The uncle was slightly surprised.

Myocardial infarction seems to be a serious disease!

Can it be cured without surgery?

Zhang Yi asked him: "Yes, what? Do you want to have surgery so much?"

The uncle laughed and said: "Hehe, no, no, who wants to have surgery when you can take medicine?"

After that, Zhang Yi prescribed medicine for the uncle and he left the clinic.

At this time, looking at the anxiously waiting patients outside the door, Zhang Yi raised his hand and looked at his watch.

Unconsciously, it was five o'clock in the afternoon.

Time flies.

But...

Where is the little girl with phenylketonuria?

How come it has been several hours, and the test results haven't been brought in yet?

Just thinking about it, the door of the clinic that had just been closed was knocked.

"Come in."

"Doctor Zhang, we are back! Can you take a look at this test list? ”

The people who came were the little girl’s family.

The main examination items for phenylketonuria are blood sampling and urine testing.

Because the cause of this disease is the high level of phenylpyruvic acid in the blood.

Why is it so high?

Phenylpyruvic acid is a metabolite of phenylalanine.

And phenylalanine is an essential amino acid for the human body.

A part of it can produce tyrosine under the action of phenylalanine hydrogenase in liver cells, and tyrosine can participate in the synthesis of important human hormones such as thyroxine and adrenaline.

Another part can be used for the synthesis of human protein.

Only a small part will produce a small amount of phenylpyruvic acid under the action of liver transaminase.

Under normal circumstances, phenylalanine has these three synthetic routes.

But the little girl in front of her is congenitally deficient in phenylalanine hydrogenase due to a genetic defect.

As a result, her phenylalanine has only two routes to go.

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