Maple syrup urine disease

Symptoms

What are the main symptoms of maple syrup urine disease?

If a newborn is untreated the following symptoms occur in classic MSUD. The first symptom of maple syrup urine disease is the maple syrup odor to the urine and is noted within the first twelve hours after birth. The next symptom seen (within 12-24 hours of birth) is increased levels of the branched-chain amino acids in the plasma. The branched-chain amino acids are leucine, isoleucine, and valine. At age 2-3 days poor feeding and irritability are present as well as ketonuria- the presence of ketones in the urine.

The brain function begins to be affected at 4-5 days old. Signs of this include lethargy (a lack of energy), episodes of apnea where they stop breathing, and muscle spams. Certain movements described as "fencing" and "bicycling" can also be seen. At age 7-10 days a coma and respiratory failure will occur and may lead to death.

Individuals with intermediate MSUD have partial enzyme activity, so their presentation is different. These individuals may only show symptoms when stressed by fasting, which can include poor eating, poor growth, irritability, developmental delays, acute leucinemia, ketonuria, and encephalopathy.

References
  • Maple Syrup Urine Disease. (2013, May 9). Retrieved February 5, 2016, from GeneReviews: [link url=
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Are there different types of maple syrup urine disease?

What health problems should my doctor watch for with maple syrup urine disease?

What could it be aside from maple syrup urine disease?

What is the hallmark feature of maple syrup urine disease?

What is the biggest risk for having a more severe course of maple syrup urine disease?

Are there different types of maple syrup urine disease?

There are four sub-types of maple syrup urine disease: classic, intermediate, intermittent and thiamine-responsive. Classic maple syrup urine disease presents with all of the classic symptoms within hours and days of birth. It is the most severe of all the sub-types. If left untreated further symptoms may develop including nausea, anorexia, dystonia, ataxia, cognitive impairment, hallucinations, and sleep disturbances. Acute episodes of amino acid imbalance usually require hospitalization due to the nausea and vomiting. The brain damage accumulated in an acute episode is often reversible. However, damage accumulated due to prolonged amino acid imbalance is not reversible. There is little to no (0-2%) of normal enzyme activity in these patients.

Intermediate have the maple syrup odor to their urine and may also present with developmental delay and feeding problems in infancy. Oftentimes they are diagnosed with MSUD between 5 months and 7 years old, presenting with intellectual disability. Both chronic and acute imbalances are seen with the intermediate MSUD. Enzyme activity varies from 3-30% in these patients.

Intermittent MSUD patients present during times of stress such as infection or surgery. Their symptoms are the same as classic MSUD. The enzyme activity is between 5 and 20%. Prior to the first episode, these patients have normal physical and intellectual development.

Thiamine-responsive is the rarest sub-type. The age of onset is later in life and presents with the same signs and symptoms as intermediate MSUD. Thiamine-responsive individuals are thought to be treated with just thiamine supplementation. However, only one individual has been found to be truly responsive to only thiamine supplementation. Dietary restriction is also needed for most individuals with thiamine-responsive MSUD.

References
What health problems should my doctor watch for with maple syrup urine disease?

Maple syrup urine disease can cause several other health problems. Chronic amino acid deficiency due to the restriction of the branched-chain amino acids can present with any of the following symptoms: anemia, hair loss, anorexia (not eating), acrodermatitis (a childhood skin condition usually caused by viruses, it looks like a rash and is usually not itchy), and fatigue.

Recurrent infections of Candida albicans, a yeast, are common within the mouth and the esophageal tract when patients are hospitalized during an acute episode. Also during hospitalization, physicians should watch for acute pancreatitis. Acute pancreatitis is an inflammation of the pancreas, symptoms may be swollen and tender abdomen, nausea, vomiting, or fever.

One study showed that individuals with MSUD often have a lower IQ, are at an increased risk of mood disorders, anxiety, attention deficit and hyperactivity disorder (ADHD), and movement disorders. Depression, anxiety, and poor impulse control were seen in 86% of patients by age 36. ADHD was noted in 54% of patients on dietary treatment and in 82% of patients that have had a liver transplant. Within the adult patients studied, 70.6% had a movement disorder. Movement disorders included tremors, dystonia, or both tremors and dystonia. Tremors are unintentional back and forth movements of parts of the body. Dystonia are involuntary muscle contractions that result in abnormal positions or posture.

References
  • Maple Syrup Urine Disease. (2013, May 9). Retrieved February 5, 2016, from GeneReviews: NCBI
  • Muelly ER, Moore GJ, Bunce SC, Mack J, Bigler DC, Morton DH, Strauss KA. Biochemical correlates of neuropsychiatric illness in maple syrup urine disease. J Clin Invest. 2013;123:1809?20. [PubMed]
What could it be aside from maple syrup urine disease?

There are several other metabolic disorders that have a similar neonatal presentation as maple syrup urine disease. Hyperketosis syndromes, urea cycle defects, glycine encephalopathy, propionic acidemia, or methylmalonic acidemia. All of these disorders are due to an abnormal accumulation of particular amino acids. They share some of the same symptoms: nausea, vomiting, delayed growth, coma, and encephalopathy (abnormal brain function). Maple syrup urine disease is the only disease with the unique odor to the urine which helps to differentiate it from the other metabolic disorders.

Aside from the metabolic disorders it is also important to rule out hypoglycemia (low blood sugar), status epilepticus (continuous epileptic seizures), meningitis (inflammation of the membranes of the brain), encephalitis (inflammation of the brain), kernicterus (build-up of billirubin from the destruction of old red blood cells), or birth asphyxia (reduced intake of oxygen before, during or just after birth).

References
  • Maple Syrup Urine Disease. (2013, May 9). Retrieved February 5, 2016, from GeneReviews: NCBI
What is the hallmark feature of maple syrup urine disease?

The maple syrup odor to the urine of individuals with maple syrup urine disease is the distinguishing feature of the disease. This can help doctors easily recognize it and discern it from other metabolic disorders.

References
  • Maple syrup urine disease. (2013, December). Retrieved February 5, 2016, from Genetics Home Reference: GHR
What is the biggest risk for having a more severe course of maple syrup urine disease?

Inability or noncompliance with the dietary restrictions is the single largest risk factor for more severe maple syrup urine disease and total noncompliance can lead to severe mental retardation and death.

References
  • Maple Syrup Urine Disease. (2013, May 9). Retrieved February 5, 2016, from GeneReviews: NCBI

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