Maple syrup urine disease

An inherited condition caused by not having enough of a particular enzyme which helps the body to deal with amino acid. The urine smells like maple syrup. It can be fatal if not treated.

A rare genetic disease due to a mutation in the genes that code for the branched-chain amino acid dehydrogenases. Characterized by mental retardation, ketoacidosis, and early death. The urine of such patients smells like maple syrup, hence the name.

Maple syrup urine disease (MSUD) is a progressive autosomal recessive inborn error of branched-chain amino acid (BCAA) metabolism. Leucine, isoleucine, and valine are toxic to developing brain tissue. MSUD may have four forms: classic, intermittent, intermediate, and thiamine responsive. About 75% of cases are the classic form, which if untreated has severe effects. MSUD is rare, occurring in about 1 in 300,000 births overall. However, conservative Mennonites have a reported frequency of 1 in 176 births.

An inborn defect of amino acid metabolism causing an excess of valine, leucine, isoleucine, and alloisoleucine in the urine, which has an odor like that of maple syrup. Untreated it leads to mental retardation and death in infancy.

An autosomal recessive metabolic disease involving defective metabolism of branched chain amino acids. The disease is so named because of the characteristic odor of the urine and sweat. The amino acids involved are leucine, isoleucine, valine, and alloisoleucine. Clinically there is rapid deterioration of the nervous system in the first few months of life and then death at an early age.

A hereditary anomaly in body chemistry disrupts the usual breakdown process of amino acids. This leads to the buildup of abnormal acids in the blood and urine, resulting in a distinct maple syrup-like scent in the urine. Additionally, this condition triggers severe ketoacidosis, seizures, and potentially even coma.