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Maple syrup urine disease (MSUD): Metabolic disorder

  1. 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

  1. Maple syrup urine disease is also known under these synonyms:


  1. 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.

Causes of MSUD

  1. 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

  1. 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

  1. 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. .

Diagnosis and investigations

  1. Newborn babies receive a heel prick in their first week of life, which reveals the condition.

Treatment with appropriate nutrition and medication

  1. 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

  1. 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.

Complications of Metabolic Disease

  1. 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.

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