MAPLE SYRUP URINE DISEASE

Maple syrup urine disease is a rare, inherited metabolic disorder. Your body cannot break down particular amino acids due to this condition. Amino acids are the byproducts of your body’s protein digestion from the diet. 

Amino acids are processed by enzymes to be used to maintain all of your body’s activities. The amino acids and their metabolites, known as keto acids, accumulate in your body if any of the required enzymes are absent or faulty. As the levels of these drugs rise, they may cause coma, neurological damage and life-threatening conditions.

TYPES

Maple syrup urine disease is also categorized into four kinds, including:

  • branched-chain ketonuria
  • branched-chain ketoaciduria
  • branched-chain alpha-keto acid dehydrogenase deficiency
  • BCKDC deficiency

All of these conditions are inherited genetic illnesses. They differ in terms of enzyme activity, severity, and the age at which the disease first manifests itself.

SYMPTOMS

The following are some of the earliest signs of classic maple syrup urine disease:

  • weight loss
  • irritability
  • weak absorbing ability
  • irregular sleep patterns
  • Intense crying
  • lethargy
  • poor appetite
  • a distinctive maple sugar odor in earwax, sweat, and urine
  • alternating episodes of hypertonia (muscle rigidity) and hypotonia (muscle limpness)

Intermediate and thiamine-responsive MSUD symptoms include:

  • poor growth
  • feeding problems
  • neurological deficiencies
  • seizures
  • developmental delays
  • a distinctive maple sugar odor in earwax, sweat, and urine

DIAGNOSIS

According to the National Newborn Screening and Genetics Resource Center (NNSGRC), every state in the US screens infants for maple syrup urine disease as part of their newborn screening program, a blood test that screens for more than 30 disorders.

It is crucial to detect MSUD before birth to prevent long-term harm. Additional testing may be recommended to confirm the findings and avoid the onset of symptoms in cases where both parents are carriers, and their child’s MSUD test is negative.

TREATMENT

If your child is diagnosed with maple syrup urine disease, seek medical help as soon as possible to avoid significant medical issues and intellectual disabilities. The first step in treatment is to lower the amount of BCAAs in your baby’s blood.

This usually entails intravenous (IV) delivery of amino acids that don’t contain BCAAs and glucose to provide additional calories. The treatment will encourage the body’s current leucine, isoleucine, and valine to be used more effectively. At the same time, it will lower BCAA levels while providing essential protein.

In collaboration with a metabolic specialist and a dietitian, your physician will develop a long-term treatment plan for your kid with maple syrup urine disease. The treatment plan aims to give your child all of the protein and nutrients they need for optimal growth and development. The strategy will also prevent too many BCAAS from accumulating in their blood.

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