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Maple Syrup Urine Disease (MSUD) - Cleveland Clinic
- https://my.clevelandclinic.org/health/diseases/21168-maple-syrup-urine-disease
- Complications of maple syrup urine disease include: Brain damage, neurological problems, and developmental delays. Increased risk of attention deficit/hyperactivity disorder (ADHD), anxiety, and depression. Loss of bone mass, causing bones …
Maple syrup urine disease - About the Disease - Genetic …
- https://rarediseases.info.nih.gov/diseases/3228/maple-syrup-urine-disease/
- Maple syrup urine disease (MSUD) occurs when the body is unable to breakdown certain parts of proteins. This leads to the build-up of toxic substances that can cause organ and brain damage. There are several forms of MSUD. The most common is the classic or infantile form. Symptoms of the classic form of MSUD start in early infancy and include ...
Maple Syrup Urine Disease (MSUD) | Children's Hospital …
- https://www.chop.edu/conditions-diseases/maple-syrup-urine-disease-msud
- Maple syrup urine disease is a rare inherited disorder caused by the body’s inability to properly process amino acids, leading to a characteristic odor of maple syrup in the baby's urine. If not diagnosed and treated soon after birth, maple syrup urine disease (MSUD) can be life threatening – as early as the first two weeks of life.
Maple Syrup Urine Disease - NORD (National Organization …
- https://rarediseases.org/rare-diseases/maple-syrup-urine-disease/
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Maple syrup urine disease: MedlinePlus Genetics
- https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease/
- Mutations in the BCKDHA, BCKDHB, and DBT genes can cause maple syrup urine disease. These three genes provide instructions for making proteins that work together as part of a complex. The protein complex is essential for breaking down the amino acids leucine, isoleucine, and valine, which are present in many kinds of food, particularly protein-rich foods such as milk, meat, and …
Maple syrup urine disease - Diagnosis & Treatment - Genetic and …
- https://rarediseases.info.nih.gov/diseases/3228/maple-syrup-urine-disease/diagnosis/
- They also evaluate and care for individuals with birth defects, metabolic diseases, and diseases caused by the interaction of genetic and environmental factors. A genetic counselor is not a doctor, but has received specialized training in medical genetics and counseling.
Maple Syrup Urine Disease: What You Need to Know
- https://www.webmd.com/a-to-z-guides/what-is-maple-syrup-urine-disease
- Maple syrup urine disease (MSUD), or maple syrup syndrome, is a type of metabolic disorder that affects the way your body converts food into energy. People with …
Maple Syrup Urine Disease - Johns Hopkins All Children's …
- https://www.hopkinsallchildrens.org/Patients-Families/Health-Library/HealthDocNew/Maple-Syrup-Urine-Disease
- Maple syrup urine disease (MSUD) is a rare metabolic disorder that some babies are born with. It’s caused by a defect in the enzymes that break down some amino acids. Most newborn babies in the United States have their blood tested for MSUD as part of newborn screening. This lets doctors start treatment, usually with a special diet, right away to help prevent problems.
Maple syrup urine disease - NORD (National Organization …
- https://rarediseases.org/gard-rare-disease/maple-syrup-urine-disease/
- Maple syrup urine disease (MSUD) occurs when the body is unable to breakdown certain parts of proteins. This leads to the build-up of toxic substances that can cause organ and brain damage. There are several forms of MSUD. The most common is the classic or infantile form. Symptoms of the classic form of MSUD start in early infancy and include ...
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