SNP Shot: Genomic Insights

Maple syrup urine disease (MSUD) is a genetic condition where the body struggles to break down specific amino acids, which are the building blocks of proteins. This disorder is named for the sweet, maple syrup-like smell of urine in affected babies. Other symptoms include difficulty feeding, vomiting, tiredness (lethargy), unusual movements, and developmental delays. Without treatment, MSUD can cause seizures, coma, and ultimately, death.

MSUD is often grouped based on the severity and timing of its symptoms. The most frequent and serious type is the classic form, which appears shortly after a baby is born. Other, less severe forms of MSUD appear later in infancy or childhood. While milder, these variant forms still require treatment to prevent developmental delays and other health complications.

Inheritance:

MSUD follows an autosomal recessive inheritance pattern. This means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. The parents, who each carry only one copy of the mutated gene, usually don't show any signs or symptoms of MSUD themselves.