Master Maple Syrup Urine Disease with Picmonic for Medicine

Maple syrup urine disease, also called branched-chain ketoaciduria, is a metabolic disorder caused by a deficiency of the alpha ketoacid dehydrogenase complex. This enzyme complex structure is analogous to alpha-ketoglutarate dehydrogenase and pyruvate dehydrogenase, requiring the same cofactors thiamine diphosphate, FAD, NAD, lipoate, and coenzyme A. Alpha ketoacid dehydrogenase is responsible for degradation of branched-chain amino acids.

Alpha ketoacid dehydrogenase is responsible for the degradation of branched-chain amino acids isoleucine, leucine, and valine.

Leucine is a branched-chain amino acid that accumulates in the blood and urine in maple syrup urine disease.

Isoleucine is a branched-chain amino acid that accumulates in the blood and urine in maple syrup urine disease.

Valine is a branched-chain amino acid that accumulates in the blood and urine in maple syrup urine disease.

A seizure is defined as a transient episode of abnormal, excessive neuronal activity. Seizures can be a symptom of maple syrup urine disease.

Infants with this metabolic disorder initially seem healthy at birth but, if left untreated, can suffer from CNS defects and intellectual disability.