Maple syrup urine disease

Maple syrup urine disease (MSUD), also known as branched-chain ketoaciduria, is a rare, inherited metabolic disorder. The disease is named for the distinctive sweet odor of affected infants' urine, particularly prior to diagnosis, and during times of acute illness.

Pronunciation

Maple syrup urine disease: /ˈmeɪpəl ˈsɪrəp ˈjuːrɪn diˈziːz/

Etymology

The term "Maple syrup urine disease" is derived from the characteristic maple syrup odor of the urine in afflicted individuals. This odor is a result of the accumulation of certain amino acids in the body.

Definition

Maple syrup urine disease is an inborn error of metabolism, which leads to the accumulation of certain amino acids in the body due to the body's inability to metabolize them properly. This is caused by a deficiency in the enzyme branched-chain alpha-keto acid dehydrogenase complex (BCKD), which is necessary for the breakdown of the amino acids leucine, isoleucine, and valine.

Symptoms

Symptoms of MSUD may include poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. If untreated, MSUD can lead to significant physical and neurological damage, and even death.

Treatment

Treatment for MSUD typically involves a diet that is low in the amino acids leucine, isoleucine, and valine. This is often supplemented with a formula that contains the other necessary amino acids, vitamins, and minerals. In some cases, liver transplantation may be considered.

Related Terms

External links

Medical encyclopedia article on Maple syrup urine disease
Wikipedia's article - Maple syrup urine disease

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Maple syrup urine disease