What is MSUD?
Maple syrup urine disease (MSUD) is a disease in an inherited disorder in which the body is unable to process certain protein building blocks (amino acid) properly. Urine in a person with this condition can smell like maple syrup. This disease can cause brain damage during times of physical stress.
This condition is called such name because the distinctive sweet odor of affected infant's urine and its also characterize by poor feeding and developmental delay. If untreated, maple syrup urine disease can lead to seizures, coma, and death.
The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other health problems if not treated. It is also an autosomal recessive disease which mean it can be inherited.
This condition is called such name because the distinctive sweet odor of affected infant's urine and its also characterize by poor feeding and developmental delay. If untreated, maple syrup urine disease can lead to seizures, coma, and death.
The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other health problems if not treated. It is also an autosomal recessive disease which mean it can be inherited.
Causes:
- Caused by gene defect.
- Person with this condition cannot break down the amino acid leucine, isoleucine, and valine.
- These lead to build up of chemicals in the blood.
- Avoiding food
- Coma
- Feeding difficulties
- Lethargy
- Seizures
- Urine that smell like maple syrup
- Vomiting
The Chemical Reaction
The body has defective enzymes to break down or catabolyzed the branched chain amino acids. Breakdown or catabolism of these amino acids is an essential process so that the body can use the amino acids and also prevent them from accumulating in the body. Because the enzyme responsible for the breakdown is defective (as it cannot breakdown or process the amino acids properly), the amino acids accumulate. The accumulation of the amino acids poses a danger to the brain and overall neural function of the infant as these proteins and their byproducts are toxic. The condition can then lead to progressive degeneration of brain functions, seizures, coma and death, especially when left untreated.
MSUD disease is said to be cause by alteration in gene or gene mutation. Changes in genes DBT, DLT, BCKDHA and BCKDHE would lead to this disease. These genes are responsible for instructing the cells to process effectively and break down the amino acids isoleucine, leucine, and valine. Because the genes are defective, false instruction has given to the cell lead to false processing of the proteins.
The gene mutations are inherited conditions and the disease follows an autosomal recessive pattern. This means each cell has both copies of the faulty gene. Parents of a person with an autosomal recessive disease carry a copy of the faulty gene, but most often the parents don’t manifest the signs and symptoms of the disease.
MSUD disease is said to be cause by alteration in gene or gene mutation. Changes in genes DBT, DLT, BCKDHA and BCKDHE would lead to this disease. These genes are responsible for instructing the cells to process effectively and break down the amino acids isoleucine, leucine, and valine. Because the genes are defective, false instruction has given to the cell lead to false processing of the proteins.
The gene mutations are inherited conditions and the disease follows an autosomal recessive pattern. This means each cell has both copies of the faulty gene. Parents of a person with an autosomal recessive disease carry a copy of the faulty gene, but most often the parents don’t manifest the signs and symptoms of the disease.
Treatment
When the condition is diagnosed, and during episodes, treatment involves eating a protein-free diet. Fluids, sugars, and possibly fats are given through a vein (IV). Peritoneal dialysis or hemodialysis can be used to reduce the level of abnormal substances.
Long term treatment requires a special diet. The diet includes a man-made infant formula with low levels of the amino acids leucine, isoleucine, and valine. Persons with this condition must remain on this diet permanently.
It is very important to always follow this diet to prevent nervous system (neurological) damage. This requires frequent blood tests and close supervision by a registered dietitian and physician, as well as cooperation by the parents.
Long term treatment requires a special diet. The diet includes a man-made infant formula with low levels of the amino acids leucine, isoleucine, and valine. Persons with this condition must remain on this diet permanently.
It is very important to always follow this diet to prevent nervous system (neurological) damage. This requires frequent blood tests and close supervision by a registered dietitian and physician, as well as cooperation by the parents.