What are the symptoms of maple syrup urine disease (MSUD)?
Symptoms of classic MSUD appear in newborns within 48 hours of birth. In older children, signs of intermediate, intermittent, and thiamine-responsive MSUD usually develop before age 7. Symptoms can progress from mild to potentially life-threatening without treatment. Getting your child to an emergency department (ED) immediately at the first sign of MSUD is essential.
Signs that your child has MSUD include:
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- A sweet, syrupy smell in their pee, sweat or earwax.
- Lethargy (they may move slowly or appear tired or weak).
- Irritability or fussiness.
- Not eating.
Without treatment, symptoms can progress to a metabolic crisis. During a metabolic crisis, the processes that allow your body to break down food malfunction. The amino acids and toxic byproducts they produce build up in your body.
Signs of a metabolic crisis include:
- Abnormal muscle movements (spasms causing your child to arch their head, neck and spine backward).
- Seizures or convulsions (uncontrollable shaking).
- Vomiting.
- Coma.
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Without treatment, a metabolic crisis can lead to death.
Even diagnosed children and adults managing MSUD can experience trigger events — like an infection, injury and stress — that cause a metabolic crisis. Get help fast.
What causes maple syrup urine disease (MSUD)?
Children born with MSUD inherit a genetic mutation that prevents their bodies from breaking down the amino acids leucine, isoleucine and valine. Normal (non-mutated) genes contain instructions that tell your body how to make enzymes (chemicals) that break down these amino acids. But if you have the mutations, you may have little to none of the enzyme activity needed to break down these amino acids. For example,
- Your body may not make the enzymes at all.
- Your body may not make enough of the enzymes.
- Your body may make enough enzymes — but they don’t work correctly to break down the amino acids.
As a result, the amino acids build up, and so do their toxic byproducts. This leads to a metabolic crisis.
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The mutations may appear on any of the three genes responsible for enzymes breaking down the three amino acids. These genes are:
- BCKDHA.
- BCKDHB.
- DBT.
How is maple syrup urine disease (MSUD) inherited?
It’s inherited in an autosomal recessive pattern. A child is born with MSUD when both parents are carriers of the specific gene mutation and pass it on. Being a “carrier” means you have one normal copy of the gene and one mutated copy. Carriers don’t develop MSUD. To develop MSUD, you inherit two mutated genes — one copy of the altered gene from each parent.
The way you inherit MSUD is what causes it to be more common in communities where people share similar genes (and similar genetic mutations).
What are the complications of this condition?
The toxins in your system can damage several organs and body systems. Complications include:
- Brain damage, neurological problems and developmental delays.
- Increased risk of attention deficit/hyperactivity disorder (ADHD), anxiety and depression.
- Loss of bone mass (osteoporosis), causing bones to fracture easily.
- Swollen pancreas (pancreatitis), especially during a metabolic crisis.
- Chronic headaches caused by increased blood pressure in your skull.
- Movement disorders such as tremors and uncontrolled muscle contractions.
- Coma and death caused by infection, stress or poor dietary control.
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