Brief Description

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.

Defect

ENZYME 

Incidence

1:180,000 

Manifestation

Characterized by poor feeding, lack of energy (lethargy), vomitting, developmental delay.,seizures, urine smell like a maple syrup.

Type/Forms

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.

Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.

Diagnosis

Laboratory studies such as Plasma Amino Acid Test and Urine Amino Acid Test

Prognosis

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.. 

Treatment

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 

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