Maple syrup disease is a genetic disease that is associated with metabolic imbalances in amino acids such as leucine, isoleucine, and valine. Their concentration in body fluids increases, causing poisoning, ketoacidosis, convulsions and even a coma.
History
For the first time in the medical literature, maple syrup disease in adults was described in 1954 by the physician Menkes. She received this name because of the specific smell of urine in patients. To researchers, it resembled
burnt sugar or wood syrup. Another more scientific name is branched acid disease.
It occurs approximately once per one hundred and fifty thousand newborns, since the type of inheritance of this gene is autosomal recessive. The disease proceeds severely and often ends in death in childhood.
Etiology
For the development of the disease, both parents must be carriers of the defective gene responsible for the work of branched chain alpha-keto acid dehydrogenase. In nature, this enzyme is found in protein-rich foods such as eggs, milk, cheeses, poultry and others. The newborn develops organic acididemia, which is extremely dangerous for the nervous system.
Maple syrup disease is more common in Jews, Amish, and Mennonites. This is due to the fact that they live in a closed social group, and marriages most often occur between very distant relatives, which means that the probability of parents having a mutated gene responsible for the exchange of amino acids increases significantly.
Symptoms
Already in the second week after birth, maple syrup disease can be reliably detected. Symptoms are the child’s unconventional behavior: he constantly cries quietly, eats poorly, often and profusely spits up, and even vomiting may appear. With the progression of intoxication, cramps appear, muscle tone grows. This is manifested in the stretching of the child’s body, as if “along the string”, with legs crossed at the ankles. Up to the development of opisthotonus.
If parents continue to ignore the disease and do not call a doctor, then the next stage of the disease is a violation of breathing and consciousness. Children become lethargic, uninitiated, fall into a stupor, and then into a coma. Neurological disorders, even with a favorable outcome, remain for life. This is a payment for the fact that maple syrup disease was not diagnosed in a timely manner. Photos of patients are depressing, and what is most sad, for the most part they depict children.
Diagnosis is based on the analysis of the presence of unfermented amino acids in the urine, as well as on clinical manifestations.
Classification
Depending on the intensity of manifestations and the degree of inertness of dehydrogenase, several forms of the disease are distinguished:
- Classical Shortly after the birth of an apparently healthy baby, just a few days later, symptoms begin to manifest. First, this is a lack of appetite and a rejection of the chest, then a decrease in body weight, periods of sleep apnea. Then single clonuses, and then clonic-tonic convulsions. It ends with a coma. The enzyme activity is below two percent.
- Periodic. The disease does not manifest itself in any way until six months, or even up to two years of life. The trigger is bacterial or viral infection, vaccination, or an excessive increase in protein in food. Symptoms develop on an increasing basis. The enzyme activity is up to twenty percent.
- Thiamine-dependent. In its clinical manifestations, it is similar to the previous form. A significant difference is that vitamin B1 is used in the treatment, which significantly reduces the concentration of amino acids in urine and blood.
Treatment
Since a person enters the hospital in a state of severe poisoning, it is necessary to start treating maple syrup disease with detoxification. For this, plasmapheresis,
peritoneal dialysis, transfusion of blood components, as well as forced diuresis and hemosorption are used.
After stabilization of the patient's condition, they begin to adjust metabolic disorders. First of all, this is a diet with a reduced protein content, sometimes refusal from breastfeeding is recommended. Strict adherence to nutritional rules will help to avoid further damage to the nervous system.
Modern technologies have made it possible to practically cure maple syrup disease. Science offers and puts into practice drugs that will replace the necessary amino acids. They will maintain the level of metabolism within normal limits, preventing poisoning even with a normal diet.
Subject to the relevant recommendations and timely appeal to the hospital, a person will be able to live a full life. Unfortunately, neurological disorders in children develop rapidly, and parents do not have time to take appropriate measures.