Maple syrup urine disease (MSUD) is caused by a gene defect. Persons with this condition cannot break down the amino acids leucine, isoleucine, and valine. This leads to a buildup of these chemicals in the blood.
Characterized by poor feeding, lack of energy (lethargy), vomitting, developmental delay.,seizures, urine smell like a maple syrup.
Classic type is the most common and severe form, which can be apparent soon after birth.
Variant Type is the milder which can be apparent later on infancy or adulthood, but still involve developmental delays.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.
Laboratory studies such as Plasma Amino Acid Test and Urine Amino Acid Test
Lifetime threatening if untreated. Morbidity can almost entirely be prevented with early diagnosis (in a neonate younger than 10 d), with appropriate treatment at presentation and during episodes of potential metabolic decompensation..
Long term treatment requires a special diet which includes a man made infant formula with low levels of amino acids, acid leucine,isoleucine, and valine.
Some patient have been responsive with THIAMINE