Real-life version of "Fragrant Concubine"? Newborns have a sweet fragrance all over their bodies that can't be washed off! It turns out to be a disease...

Expert of this article: Zhu Hongjian, Director of Urology Department, Beijing Jiangong Hospital, Chief Physician

Recently, a news story about #a newborn baby emitting a sweet fragrance all over his body# has attracted people's attention.

It is reported that Tangtang (pseudonym), who was born only 10 days ago and weighed 2.6 kg, has had a sweet smell all over her body since birth. After sweating or peeing, the smell of burnt maple syrup from her body becomes more obvious, and it cannot be washed away by taking a bath.

After being admitted to the hospital, Tangtang was diagnosed with a rare disease - maple syrup urine disease - after consultation with experts.

So, what is maple syrup urine disease? What are the symptoms? How to treat it? Next, let’s share some basic knowledge.

What is maple syrup urine disease? Maple syrup urine disease is caused by the absence of the BCKAD gene in the body, which causes problems in the degradation of the metabolic enzymes in the body - branched-chain amino acids (mainly leucine, isoleucine, and valine, which are three amino acids that the human body cannot produce on its own and are obtained from food). This causes the branched-chain amino acids and their metabolic intermediates (three keto acids) to accumulate in the body, ultimately leading to brain development disorders, brain atrophy and other diseases related to the nervous system.

When these three keto acids are excreted from the patient's urine, the urine will have a sweet caramel smell, similar to the smell of maple syrup, hence the name maple syrup urine disease.

Maple syrup urine disease is an autosomal recessive genetic disease, and marriage between close relatives will increase the risk of offspring suffering from the disease.

What are the symptoms of maple syrup urine disease? Most children are normal when they are born, and their urine or sweat has a special odor (maple syrup smell) 12 to 24 hours after birth.
Within 2 to 3 days after birth, the baby will have difficulty feeding and become irritable, and the body will have ketonuria when urinating.

There will be feeding difficulties in the first 4 to 5 days after birth, and the child will experience vomiting, drowsiness, anorexia, apnea, etc.

Within 7 to 10 days after birth, there will be symptoms of hypopnea and coma.

Symptoms in breastfed newborns may develop later, up to 2 weeks after birth.

Rare genetic diseases such as maple syrup urine disease can be prevented and controlled before childbirth through preimplantation genetic testing (third-generation in vitro fertilization) or prenatal diagnosis.

What should I do if I have maple syrup urine disease? If you have maple syrup urine disease, you should seek prompt treatment. If you do not receive the correct diagnosis and treatment, the child will often die within weeks or months.

Treatments for maple syrup urine disease include:

1. Diet therapy: Diet therapy can be used to treat patients with chronic maple syrup urine disease. Develop good living and eating habits in daily life, and arrange and distribute diet reasonably. Choose milk powder or amino acid powder that can supplement special formulas, and avoid the intake of foods containing leucine and isoleucine.

When matching the diet, you need to understand the formula content in the food ingredient list in detail. You can also use formula food or medical food. During the treatment period, blood amino acid analysis is required every week to adjust the food.

2. Treatment of acute metabolic crisis: Acute metabolic disorders in maple syrup urine disease lead to a large accumulation of branched-chain amino acids and their metabolic intermediates in the body, resulting in severe acidosis and rapid decline of nervous system function, which requires active treatment, such as dialysis, standard total intravenous nutrition without branched-chain amino acids, glucose plus low-dose insulin, and recombinant growth hormone therapy.

3. Drug treatment: You can take vitamin B1 orally according to the doctor's instructions. It needs to be taken orally regularly for a long time to achieve the therapeutic effect. During this period, laboratory tests should be performed regularly to understand the treatment effect and recovery status.

4. Surgical treatment: For children with typical maple syrup urine disease, liver transplantation can be considered once the diagnosis is confirmed. The effect is rapid after surgery and biochemical metabolism returns to normal.