Writing by Seven Monarchs
A person’s sweat is fragrant, his urine is fragrant, and even earwax is fragrant. Is this possible?
Actually, there is such a group of people that their “body odor” is actually “body fragrance”, and even the gifted Xiang Fei is an expert when they smell it.
But because of the aroma of this body, these people can only strictly control their diet for life, and most of them can only live on special milk powder. Because they have a disease called Maple syrup urine disease.
The way maple diabetes is broken down is maple diabetes, which is not a type of diabetes. Maple syrup means that these people’s body fluids, urine, and even earwax have a refreshing sweetness similar to maple syrup.
Maple diabetes was discovered more than sixty years ago by American physician John Hans Menkes.
In the 1950s, Menkes was a young resident physician. Once, he treated a baby who unfortunately died prematurely because of the “downtime” of various organs. After questioning the parents, he found out that several of the couple’s previous children had also died in infancy for unknown reasons. But these children all have one thing in common: their body fluids have a sweet, tangy scent.
These phenomena led Menkes to speculate that the family’s children may have metabolic diseases. Later, he discovered the source of the odor: branched-chain ketoacids (BCKA).
Figure | pixabay
branched-chain keto acids are products of abnormal metabolism of essential amino acids such as leucine, isoleucine and valine. They accumulate in important organs and brains of human beings, causing Serious damage, and even a blow to the mind. They are also excreted in urine and sweat, and the concentration of branched-chain keto acids in earwax is especially high, so the earwax of maple diabetes has a strange fragrance.
Among these branched-chain keto acids, the aroma of fenugreek (sotolone) is particularly prominent. To those who have not been exposed to the Mediterranean herb fenugreek, fenugreek lactones smell more like maple syrup. That’s why Menkes named the newly discovered disease Maple Diabetes.
Fenugreek (Trigonella foenum-graecum L.) is a Mediterranean spice. | wikimedia
This unique aroma is also an important criterion for doctors in the past to judge whether a patient has maple diabetes. Now doctors don’t need to smell children’s feces and farts, blood tests can do it.
But why are these prematurely dying children unable to properly break down those essential amino acids?
It turns out that these kids had a genetic problem.
Substances capable of breaking down the above essential amino acids (branched-chain alpha-keto acid dehydrogenase complex) are encoded by 4 genes, if one or more of these 4 genes occurs If there is a mutation, the ability to decompose the above amino acids will have different degrees of problems. The original essential amino acids of the human body will become poisons, turning people into fragrant walking corpses.
Mendelian Inheritance of Maple Syrupuria: Both parents are carriers of the gene mutation (purple) to give birth to a patient with maple syrup urine disease (red). | wikipedia
Most of these gene mutations are from recessive copies carried by the parents, so maple syrup urine disease can be inherited. In the population, approximately 1 in every 180,000 infants has maple syrup urine disease, and approximately 2,000 people in the United States suffer from maple syrup urine disease. However, in some populations with less mobile gene pools (such as Ashkenazi Jews and Amish), the incidence can be as high as one in several hundred.
Most people with maple syrup urine disease are diagnosed before age 7Diagnosed, a few people develop the disease in adulthood. In Menkes’ day, most children diagnosed with maple syrup urine died early. Modern medicine prolongs the life of these poor children, but they must adhere to strict dietary rules for life, because ordinary food can kill them at any time.
As I said just now, maple syrup urine patients cannot normally metabolize 3 essential amino acids, but the reason why these amino acids are called “essential amino acids” is that people must use them when they are alive. they.
Protein-rich foods are contraindicated in maple syrup urine patients, because eating too much can be life-threatening. | wikimedia
If you eat too much, you will die. If you don’t eat, you will die. Three meals a day have become the life and death test of maple syrup urine patients.
Since leucine, isoleucine, and valine are high in protein-rich foods such as milk, meat, and eggs, these foods are known to suffer from maple syrup urine disease taboo. In order to meet the body’s needs without eating too much protein, maple syrup urine patients usually only eat special foods and cooperate with regular blood tests.
One of these specialty foods is formula. This type of formula milk powder has broken down protein into amino acids, and is strictly formulated according to the needs of the human body to ensure that patients will not eat too much.
This little boy named Grayson McGill suffers from maple syrup urine, and his dad has to weigh him to two decimal places when preparing food for him. | BC Children’s Hospital Foundation
Such milk powder is not so much a food as a life-sustaining elixir. There are very few companies that can produce such milk powder. For example, in the United States, only a handful of manufacturers, such as Abbott Nutrition, can supply amino acid milk powder. The lives of thousands of maple syrup urine patients in the U.S. have been put at risk after Abbott was shut down this year because of bacterial contamination.
Figure | pixabay
Doctors sometimes give insulin to patients with maple diabetes, because insulin can promote protein synthesis, so that excess amino acids that cannot be metabolized in the body will be combined into protein, which will not affect the patient’s body temporarily.
Even with caution in what you eat, there is no guarantee that maple syrup urine will not flare up. Maple diabetes will come back when an injury is infected, or when the mental stress is too great. Therefore, maple syrup urine patients must also pay great attention to their physical and mental health.
If you want to eat like normal people, Maple diabetic patients can only consider liver replacement. Currently, liver transplantation is the only treatment that can bring amino acid metabolism back to normal.
In order to control this rare disease, which is not very destructive, but extremely lethal, many countries will routinely screen newborns for Maple Diabetes.
For example, in 2014, the UK National Screening Commission (UK NSC) announced that every newborn in the UK will be screened for four genetic diseases, including maple syrup. Of course, expectant mothers can also use DNA pregnancy tests to check whether their fetuses have Maple Diabetes.
All in all, it’s not a good thing to “dry sweat” and “to fart is fragrant”, their subtext is “serious illness”.
DNA Just do one thing wrong and you’ll be amazing.
DNA has to do everything right and you’ll be mediocre.
References
https:https://docs.qq.com/doc/DVFNKQmRyZFFFelBx
Cover Source: wikimedia