(E71.0) Maple-syrup-urine disease

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44 219 in individuals diagnosis maple-syrup-urine disease confirmed
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3 231 deaths with diagnosis maple-syrup-urine disease
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7% mortality rate associated with the disease maple-syrup-urine disease

Diagnosis maple-syrup-urine disease is diagnosed Men are 10.59% more likely than Women

24 451

Men receive the diagnosis maple-syrup-urine disease

1 825 (7.5 %)

Died from this diagnosis.

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19 768

Women receive the diagnosis maple-syrup-urine disease

1 406 (7.1 %)

Died from this diagnosis.

Risk Group for the Disease maple-syrup-urine disease - Men and Women aged 0-5

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In Men diagnosis is most often set at age 0-39, 45-64
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Less common in men the disease occurs at Age 40-44, 65-95+Less common in women the disease occurs at Age 30-95+
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In Women diagnosis is most often set at age 0-29

Disease Features maple-syrup-urine disease

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Absence or low individual and public risk
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Maple-syrup-urine disease - what does this mean

Maple-syrup-urine disease is an inherited disorder caused by a defect in one of the enzymes involved in the breakdown of certain amino acids. this enzyme defect leads to the accumulation of these amino acids in the body, which can cause a variety of symptoms, including sweet-smelling urine, mental retardation, seizures, and coma.

What happens during the disease - maple-syrup-urine disease

Maple-syrup-urine disease is an inherited disorder caused by a defect in the branched-chain alpha-keto acid dehydrogenase complex. this defect leads to the accumulation of branched-chain amino acids in the body and the excretion of their corresponding keto acids in the urine, resulting in the characteristic sweet odor. the accumulation of these amino acids can also lead to a disruption of the body’s metabolism, resulting in a variety of neurological and metabolic complications.

Clinical Pattern

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How does a doctor diagnose

  • Physical examination
  • Urine testing
  • Blood testing
  • Genetic testing
  • Urine organic acid analysis
  • Amino acid analysis
  • Urine sugar analysis
  • Urine ketone analysis
  • Enzyme activity testing

Treatment and Medical Assistance

Main goal: Treat the symptoms of Maple-syrup-urine disease.
  • Administer medications to reduce the levels of branched-chain amino acids in the body.
  • Provide dietary management and nutrition counseling.
  • Monitor the patient's response to treatment.
  • Provide physical therapy to help improve mobility and strength.
  • Provide speech therapy to help the patient communicate better.
  • Provide occupational therapy to help the patient with daily activities.
  • Provide psychological counseling to help the patient cope with the diagnosis.
  • Monitor the patient for any signs of infection or other complications.
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14 Days of Hospitalization Required
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Average Time for Outpatient Care Not Established

Maple-syrup-urine disease - Prevention

Maple-syrup-urine disease is a genetic disorder and is not preventable. however, genetic counseling and testing is recommended for families with a history of the disorder in order to identify at-risk individuals and provide early diagnosis and treatment.