Maple syrup urine disease (MSUD) is a rarely occurring disorder passed down through families. It is characterized by the body having a deficient supply of certain enzymes used to break down amino acids. Because of this, the amino acids valine, isoleucine, and leucine build up throughout the body in abnormal amounts. The main symptom of maple syrup urine disease is the patient's urine may smell similar to maple syrup.
If not appropriately treated, this disease can lead to neurological problems. If not treated at all, brain damage will occur, followed by death. There are a number of treatment methods available for maple syrup urine disease.
A protein-restrictive diet is the first course of treatment most doctors recommend for maple syrup urine disease. There are four types of this condition: thiamine-responsive, intermittent, intermediate, and classic. No matter which type a patient has, it's necessary for their diet to limit the number of amino acids they consume. Since the condition is present from birth, the specialized diet needs to begin very soon after a baby with maple syrup urine disease is born. There are special artificially created formulas that allow babies to get the nutrients they need without ingesting harmful amino acids.
As individuals with this condition get older, their diet options expand, but they still need to be careful not to build up levels of amino acids they cannot break down. If their amino acid levels become too high, they will develop neurological symptoms, which will be followed by brain damage. If the condition continues to go untreated, death will occur within weeks.
Some doctors have recommended thiamine therapy as a way of checking whether a patient's maple syrup urine disease is the thiamine-responsive type. However, regardless of the circumstances, thiamine alone cannot be used as a sole treatment for this condition. It is always used alongside a restrictive diet, and sometimes with other therapies as well. It can treat a variety of conditions, including metabolic disorders like maple syrup urine disease, though this disease does not always respond to thiamine.
There are many other uses for thiamine as well. It can boost an individual's immune system even when they have an immune deficiency, prevent or control heart disease, prevent potential brain damage, prevent cervical cancer, and slow kidney disease's progression in type 2 diabetes.
A patient with maple syrup urine disease is constantly at risk of a metabolic crisis, even if they follow a strict diet. A metabolic crisis occurs when the amino acid levels in the blood get too high. Patients must be treated with emergency medical intervention to lower their amino acid levels, particularly their levels of leucine. Some medical professionals recommend aggressive medical therapy to protect against and during metabolic crises.
The goal of this therapy is to reduce the factors causing the crisis. One way to do this is by increasing the calories an individual ingests. Any method of doing so is deemed valid. A patient may have intravenous treatment with glucose. If a doctor deems it necessary, there may also be a glucose-insulin drip added to the treatment plan.
One treatment option a doctor may recommend is a liver transplant. Usually, this is done when the patient is still a child. There have been some reported cases where, following a transplant, previously afflicted children had their maple urine disease cured. Their metabolism corrected itself and began to break down the amino acids as it was meant to. A transplant is successful when it cures the disease and allows the child to eat an unrestricted diet. This is the only known cure for maple syrup urine disease.
Transplants can sometimes be risky, so it's important for everyone involved to weigh the benefits and the risks. The biggest long-term concern for patients tends to be immunosuppression. It's also common for the body to reject a transplanted organ, so doctors and patients need to take great care following the surgery.
Maple syrup urine disease will sometimes have complications requiring management with pain medication. The basic symptoms don't cause pain, but a buildup of amino acids will cause other symptoms. With classic cases, individuals are not able to metabolize protein, so they experience bone loss, making them susceptible to fractures. This also makes them more likely to experience pancreatitis.
In certain cases, patients have experienced intracranial hypertension, which means blood pressure within the skull increases, leading to painful headaches. Vomiting and nausea can sometimes occur due to the headaches. Doctors may recommend medications to help manage the pain of headaches and fractures. Multiple different medications may be used if a patient is experiencing a metabolic crisis.