Shortly after Laura Colby was born, she was diagnosed with a rare metabolic disorder known as maple syrup urine disease (MSUD).
Normally, our body has an enzyme complex that breaks down the three branched-chain amino acids (BCAAs) called leucine, isoleucine, and valine. People with MSUD have genetic mutations that cause enzyme deficiencies. As a result, BCAAs and their toxic byproducts begin accumulating in the body, causing neurological dysfunction and brain damage.
Some of the treatments for MSUD include specialized diets, thiamine therapy, artificial formula, dialysis, and hemofiltration. But while these interventions have kept Colby relatively stable for the past 30 years, she is now searching for a living liver donor. Learn more about being a living liver donor.
According to reporting from Rochester First, Colby has been searching for a living liver donor for the past three years. She has sometimes found herself in metabolic crisis and is concerned about MSUD’s impact on her health.
If anybody is interested in becoming a living liver donor, please consider registering with UPMC.
What is Maple Syrup Urine Disease (MSUD)?
As described above, maple syrup urine disease is a rare disorder in which the body cannot break down the three amino acids. This condition, which is a subtype of organic acidemia, results from BCKHB, DBT, or BCKDHA mutations. People with MSUD have sweet-smelling urine. The most common and classic form of MSUD is characterized by minimal enzyme activity and appears shortly after birth; some milder forms manifest in infancy or early childhood. While this condition can be stabilized, stress, trauma, infection, or other triggers may cause crises to occur. Symptoms of maple syrup urine disease may include:
- Pancreatic inflammation
- Sweet-smelling urine
- Feeding difficulties
- Vomiting
- Fatigue and lethargy
- Osteoporosis
- Intracranial hypertension
- Irritability
- Developmental delays
- Behavioral issues such as depression and anxiety, impulsivity, or ADHD
- Seizures
- Coma
