Commonly known as Maple Syrup Disease (MSUD), the disease officially known as Branched-Chain Ketoaciduria affects newborn babies and occasionally young children. It is diagnosed from the scent of their urine and sometimes their earwax.
The disease causes their urine or earwax to smell like maple syrup and is caused by a deficiency of branched-chain alpha-keto acid dehydrogenase complex (BCKDC). This leads to amino acids building up in excess which can cause seizures, coma, and can even be fatal. It’s passed down to babies from recessive genes in both parents.
Branched-Chain Ketoaciduria, also known as Maple Syrup Urine Disease, is characterized by a maple syrup scent in your child’s urine.
Sometimes, this maple syrup smell is found in a child’s earwax.
Other symptoms include hypoglycemia, vomiting, seizures, dehydration, pancreatitis, and (rapid) neurological decline.
Newborns and those in their early childhood can develop MSUD.
It’s passed down through recessive genes of both parents.
The main cause is deficiency of branched-chain alpha-keto acid dehydrogenase complex (BCKDC) which results in excess amino acids. If not monitored closely, this disease can cause coma, seizures and even death.
Children with MSUD should have a carefully planned diet, avoiding foods that contain leucine, isoleucine, and valine – the 3 amino acids that build up to excess due to the disease.
Patients must have their blood chemistry monitored as well in order to control the disease.
(via ViralNova)
