Maple syrup urine disease (MSUD): Metabolic disorder
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Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder in which the body is unable to break down certain parts of proteins. Progressive brain damage is the main symptom of this disease, which develops at birth. The urine of patients with this condition also smells like maple syrup. The diagnosis of the disease is simple and is done quickly in Belgium and the Netherlands with the help of the heel prick. Thanks to prompt treatment with medication and dietary guidelines, the outlook is relatively good. Life expectancy is almost normal with the metabolic disorder, although life-threatening complications do occasionally arise.
Synonyms of maple syrup urine disease
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Maple syrup urine disease is also known under these synonyms:
Epidemiology
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Maple syrup urine disease is a rare disease that affects approximately 1 in 185,000 people worldwide. According to the RIVM heel prick screening plan, one child is born every four years in the Netherlands who has the disease. Boys and girls are affected in equal numbers.
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11 minMain dishpeanut oil, tofu stir-fry cubes finely seasoned, stir fry sauce sweet and sour, thick noodles, carrot julienne, beetroot julienne, yellow bell pepper, watercress,rainbow salad with tofu -
45 minMain dishRed cabbage, mild olive oil, quinoa plus, forest outing, lemon, sesame oil, soy sauce less salt, Bio Today tahini white in pot, tap water,grilled red cabbage with quinoa salad -
30 minDessertBrie, Roquefort, port salut, gruyere, Camembert, walnut, garlic, thyme, honey, grape, baguette, Red onion, red grape, raisins, Red wine, Red wine vinegar, Brown sugar,generous cheese plate with onion marmalade -
30 minDessertFull Milk, whipped cream, macaroon, custard powder, vanilla sugar, sugar, protein, amaretto, almond liqueur, basic recipe cooking pears,macaroon pastry with casserole
Causes of MSUD
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Maple syrop urine disease is an autosomal recessive hereditary disorder that results from a defect in one of the three genes (BCKDHA, BCKDHB or DBT). In patients with this condition, the body is unable to break down the amino acids (building blocks of proteins) leucine, isoleucine and valine. Due to malfunctioning amino acid metabolism, these chemicals build up in the blood, leading to progressive neurological problems.
Symptoms: Progressive brain damage
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Neurological problems The symptoms of MSUD already appear at birth. Nutritional problems, low energy, varying muscle tone, vomiting and convulsions (uncontrollable physical movements and changes in consciousness) are often the first signs of the disease. The inability of the patient to break down certain dietary proteins results in severe progressive damage to the central nervous system. This manifests itself in neurological disorders and mental retardation. In addition, a patient experiences smelly urine; it smells more specifically of maple syrup. The sweet urine smell comes from keto acids, which are breakdown products that result from impaired amino acid breakdown.
Different shapes
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MSUD comes in a variety of forms that range from mild to severe. The symptoms worsen constantly or sometimes intermittently. Usually babies come into the world with the most severe form. In this classic form, babies develop serious neurological problems such as abnormal movements and increasing spasticity just a few days after birth, followed by convulsions and a progressively deepening coma. The child is already ill at the heel prick. Patients with the less common milder form experience, for example, vomiting, developmental delay, transient balance disorders, ... When physical stress arises (infection, fever, not eating for a long time, ...) or patients take a meter of protein-rich nutrients, the complaints worsen and serious development problems arise. .
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5 minDrink without alcoholbananas, cool fresh apple-pear raspberry juice, Soy drink vanilla,soy fruit shake -
20 minMain dishsauerkraut, sticking potato, liquid baking product, half-to-half minced, Spice meatballs, pineapple, olive oil, liquid baking product,gratin sauerkraut dish with minced meat -
40 minMain dishlemongrass, fresh ginger, Red peppers, onions, tomato cubes, fresh cod fillet, coriander, oil, ground turmeric (koenjit), coconut milk, salt,fish in creamy coconut sauce -
15 minSide dishsweet potato, soft goat cheese, egg, spring / forest onion,stuffed sweet potato with egg
Diagnosis and investigations
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Newborn babies receive a heel prick in their first week of life, which reveals the condition.
Treatment with appropriate nutrition and medication
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Rapid diagnosis ensures rapid treatment, which prevents possible damage to the child. Because patients cannot break down certain dietary proteins, a lifelong diet that is low in protein is necessary, with a doctor and dietician providing advice, guidance and support. In addition, drug treatment is required. In case of illness, the patient is given sugars (extra energy).
Prognosis of disease
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The physician must start treatment before the end of the first week of life to ensure a good prognosis. Life expectancy is almost normal for patients who receive proper treatment, although the risk of life-threatening complications remains.
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15 minSide dishtraditional olive oil, curry powder, wheat flour, coconut milk, sambal oelek, chicken broth tablet, water, fresh mango,curry sauce with mango -
30 minMain dishtraditional olive oil, lean ground beef, frozen Mexican wok vegetables, salsa sauce mild, taco shell, grated young cheese, creme fraiche,Mexican vegetable in tacos -
95 minMain dishmaize chicken, lemon, coarse sea salt, pepper, extra virgin olive oil, garlic, thyme, zucchini, tomatoes (small to), black olives without pit,provençal chicken with zucchini and tomatoes
Complications of Metabolic Disease
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Even with treatment, affected patients with MSUD are at high risk of developing episodes of acute illness (metabolic crises). These are often the result of an infection, an injury, not eating (fasting) or even psychological stress. During these episodes, the patient has a rapid, sudden spike in amino acid levels requiring immediate medical intervention. Furthermore, due to progressive brain damage, patients end up in a coma and die.