I especially love to eat melon seeds and peanuts? It may be this rare disease! Experts in Shanghai have found clues...

Friends love to eat melon seeds and peanuts

Is this type of roasted food?

Peel one off and put it in your mouth full of mouth

But sometimes I love to eat melon seeds and peanuts

It may not be a gluttony, or it may be a disease...

The 23-year-old guy is because of this

A rare disease was detected -

Hitling deficiency

Cause unknown

In November this year, the 23-year-old Xiaoguan had nausea and vomiting for unknown reasons, lack of consciousness, inability to answer, and abnormal mental behavior, and was initially diagnosed with hyperammonemia.

In the process of communication, it was learned that the junior official also had unexplained confusion, dizziness and vomiting in 2018, no fatigue, chest tightness, no fever and other symptoms, and he did not pay attention to it because of his self-improvement.

It seems ordinary to love melon seeds and peanuts

But it's not simple

After Xiaoguan was admitted to the hospital, the family was very anxious, and faced a special situation, the patient was about to get engaged, and if the cause could not be determined, a major event in his life might have to be postponed.

Chen Li, chief physician of the liver disease group of the Department of Gastroenterology, and Wang Mingjie, physician, quickly formulated a diagnosis and treatment plan for the big boy. First of all, we should actively treat the symptoms, continue to reduce blood ammonia, and continue to treat liver protection, and pay close attention to the changes in the patient's mental status and indicators.

In the process of taking the medical history again, the doctor found several more suspicious points:

1. The onset of both cases is acute and the course of the disease is short, but the patient has no special symptoms, which is no different from a normal person.

2. Have hyperammonemia with mild abnormalities in liver function, but no chronic liver disease or liver cirrhosis.

3. Before the onset of the two episodes, there were heavy physical activities, and the family members deliberately gave the patients a "nutritious meal" in order to supplement nutrition.

Chief physician Chen Li asked the patient what his usual dietary preferences he had during his ward rounds, and the petty official's mother responded, "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!"

Seemingly ordinary words

But it attracted the attention of doctors

Consider that the patient is likely to be present

A particular metabolic disorder

Metabolic encephalopathy occurs as a result of elevated ammonia in the blood

So he asked the petty officials to improve

Tandem mass spectrometry of blood and urine

and whole-exome genetic testing

Examination results showed that blood tandem mass spectrometry showed increased citrulline, and urine tandem mass spectrometry showed mildly elevated uracil. Combined with the patient's clinical history, hyperammonemia, hypercitrulinemia and other characteristics, the doctor highly suspected that the junior official had "Hittling protein deficiency", which is a rare disease, due to the lack of a transport protein called Hittling 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 peanuts and melon seeds

It turns out that this is an instinctive need of the body

Patients with Hittling deficiency

He likes beans and peanuts

Foods rich in aspartic acid and arginine

This may be related to the intake of such foods

May stimulate urea synthesis

Lowers blood ammonia and improves its symptoms

Based on the above pathogenesis, on the basis of drug treatment, doctors have formulated a refined diet plan for junior officials, and the recommended protein-fat-carbohydrate ratio for patients with hittling protein deficiency is protein: 15% - 25%, fat: 40% - 50%, carbohydrate: 30% - 40%.

According to doctors, Hittling deficiency is an inherited metabolic genetic disorder and 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 usually lead a normal life with proper diet management and monitoring by a doctor. Fatty liver can also be caused by the presence of abnormal lipid metabolism, including excessive fat synthesis and impaired fatty acid oxidation, which is usually normal weight and very different from fatty liver disease associated with obesity in clinical practice.

Therefore, clinically, for patients with fatty liver who are normal or even emaciated, attention should be paid to the possibility of this disease. In addition, this disease can also be complicated by liver tumors, most of which are hepatocellular carcinoma, which cannot be ignored.

END

Source | Ruijin Hospital, Shanghai Jiao Tong University School of Medicine

Edit | Oyu (Xi)

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