Picky eaters, quite a few people have them.
But can you think of it?
Picky eaters can also hide signs of illness.
This is not alarmism.
Recently, Shanghai Jiao Tong University School of Medicine.
Affiliated to Ruijin Hospital.
A patient in the gastroenterology department.
It surprised the doctors present.
Things have to start from November last year, 23-year-old Mr. Guan is about to enter the palace of marriage, just when the family is full of joy, but he inexplicably has nausea, vomiting, delirium, even to the point of being unable to communicate with people normally, and what is even more distressing is that his mental behavior has also been abnormal.
The family immediately sent Mr. Guan to the hospital**.
The doctor who saw the doctor at that time was based on the condition of the patient.
Judged to be hyperammonemia.
Hyperammonemia. Hyperammonemia, a disease of urea cycle metabolism.
At that time, the doctor took symptomatic measures such as lowering blood ammonia, and Mr. Guan gradually sobered up. Due to the suddenness of the illness, it was the first time to hear such a diagnosis, and the family then took Mr. Guan to the Department of Gastroenterology of the Northern Campus of Ruijin Hospital for further confirmation.
The engagement is imminent, but it has not been clear, and the family is at a loss and anxious. Faced with this situation, experts from the Hepatology Group of the Department of Gastroenterology of Ruijin Hospital admitted Mr. Guan to the hospital and quickly formulated a diagnosis and treatment plan for him.
The doctor combs through the medical history.
While asking about the condition.
Doubts have finally arisen.
It is not the first time that the disease has occurred, and he also had such symptoms in 2018, and then improved on his own, but Mr. Guan did not pay attention to it.
Before the onset of the two cases, there were heavy physical activities, and the family members deliberately gave the patients a "nutritious meal" in order to supplement nutrition.
After being admitted to the hospital, when the doctor asked Mr. Guan about his usual eating habits, his mother said, "He likes to eat snacks since he was a child, and he keeps melon seeds and peanuts, but he doesn't like to eat, and he is worried to death!" ”
It was precisely this answer that alerted the experienced doctor and immediately made a judgment: Mr. Guan probably had some kind of special metabolic disorder, which caused the increase in blood ammonia to cause metabolic encephalopathy, so the doctor immediately perfected the tandem mass spectrometry of blood and urine, as well as whole exon gene testing.
According to the test results.
Combined with Mr. Guan's clinical manifestations and symptoms.
The doctor determined that Mr. Guan was suffering from a rare disease.
Hittling deficiency".
According to doctors, this is a disease caused by a deficiency of a transport protein called hitling protein in the inner mitochondrial membrane, when Hittling protein is deficient, the transfer of aspartic acid from the mitochondria is reduced, the urea cycle is blocked, and citrulline accumulates, that is, citrullineemia occurs.
Love to eat melon seeds, peanuts and other nuts.
It turns out that this is an instinctive need of the body.
Patients with Hittling protein deficiency prefer foods rich in aspartic acid and arginine such as beans and peanuts, which may be related to the fact that the intake of such foods can stimulate urea synthesis, reduce blood ammonia, and improve their symptoms.
On the basis of the drug**, the doctor formulated a refined diet plan for Mr. Guan, maintaining a low-carbohydrate, high-protein, high-fat diet and a MCT (medium-chain fat) supplementation diet.
Gastroenterology experts said.
Hittling deficiency".
It is an inherited metabolic genetic disease.
It is also a secondary urea cycle disorder.
Patients usually do not like foods that contain a lot of carbohydrates, such as rice, noodles or cakes, bread.
Instead, they prefer foods that contain fat and protein, such as meat, milk, dairy products, fried foods, and nuts.
Patients can pass.
Proper dietary management and physician monitoring.
Live a normal life.
Not only that, because this disease also has abnormal lipid metabolism, including excessive fat synthesis and fatty acid oxidation disorders, it is very likely to lead to fatty liver and even liver tumors.
Doctor reminds. This type of fatty liver.
Patients are usually of normal weight.
Fatty liver disease associated with clinically common obesity.
There is a big difference.
Therefore, it is clinically normal for body weight.
Even emaciated fatty liver patients.
The possibility of Hitling deficiency should be noted.
In the end, Xiaofang had to nag a few words.
Feeling unwell and finding abnormalities.
It is also necessary to seek medical attention in time to find out the crux of the problem.
Early treatment to avoid further progression of the disease!
Newsroom).