In medical terminology, "mut" refers to a specific type of methylmalonic acidemia (MMA). More precisely, it signifies vitamin B12-unresponsive methylmalonic acidemia type mut-.
Understanding Methylmalonic Acidemia (MMA)
Methylmalonic acidemia is an inherited metabolic disorder. Individuals with MMA have difficulty breaking down certain proteins and fats. This leads to a buildup of methylmalonic acid and other harmful substances in the blood, which can cause a variety of health problems.
Vitamin B12 Responsiveness
There are different types of MMA, some of which respond to vitamin B12 (cobalamin) supplementation. "mut" type MMA, however, does not improve with vitamin B12 treatment. This distinction is clinically significant because it influences the treatment approach.
Characteristics of "mut" Type MMA
People with "mut" type methylmalonic acidemia may experience:
- Recurrent ketoacidotic comas
- Transient vomiting
- Dehydration
- Hypotonia (low muscle tone)
- Intellectual deficit
Treatment for "mut" Type MMA
Since "mut" type MMA is unresponsive to vitamin B12, treatment focuses on:
- Dietary management (low-protein diet)
- L-Carnitine supplementation
- Management of acute metabolic crises
- In severe cases, liver transplantation
