What is the cause of mousy odor?

Untreated children with phenylketonuria often give off a mousy or musty body odor in their urine and sweat. This odor is the result of phenylacetic acid, which is a by-product of phenylalanine.

Why does PKU smell mousy?

Untreated infants with PKU tend to have unusually light eye, skin, and hair color due to high phenylalanine levels interfering with production of melanin, a substance that causes pigmentation. They may also have a musty or “mousy” body odor caused by phenyl acetic acid in the urine or sweat.

What is PKU syndrome?

Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid ) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners.

Why does phenylketonuria cause mental retardation?

Mutations in the PAH gene can cause phenylketonuria (PKU), a disorder that can change cells in the brain. The faulty protein allows dangerously high levels of phenylalanine to accumulate in the brain, poisoning the cells. If a person with PKU consumes too much phenylalanine, the build-up can cause mental retardation.

How does PKU affect intellectual development?

Phenylketonuria (PKU) is known to have a devastating effect on intellectual development early in life resulting in an IQ of <30-40, severe behavior problems and severe epilepsy if treatment is not started soon after birth.

What is neonatal Tyrosinemia?

Abstract Transient neonatal tyrosinemia (TNT) is a form of hypertyrosinemia produced by the immaturity of 4-hydroxyphenylpyruvate dioxygenase (4-HPPD), a high intake of phenylalanine and tyrosine, and a relative ascorbic acid deficiency.

What is maple sugar urine disease?

Maple syrup urine disease (MSUD) is a rare but serious inherited condition. It means the body cannot process certain amino acids (the “building blocks” of protein), causing a harmful build-up of substances in the blood and urine. Normally, our bodies break down protein foods such as meat and fish into amino acids.

What is the function of galactosemia?

Mutations in the GALT, GALK1, and GALE genes cause galactosemia. These genes provide instructions for making enzymes that are essential for processing galactose obtained from the diet. These enzymes break down galactose into another simple sugar, glucose, and other molecules that the body can store or use for energy.

What medical condition causes body odor?

Trimethylaminuria is a disorder in which the body is unable to break down trimethylamine, a chemical compound that has a pungent odor. Trimethylamine has been described as smelling like rotting fish, rotting eggs, garbage, or urine.