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What is MSUD?

Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine. Beginning in early infancy, this condition is characterized by poor feeding, vomiting, lack of energy (lethargy), and developmental delay.

Maple syrup urine disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated.

Symptoms of MSUD

  • urine that smells like maple syrup
  • seizures
  • central nervous system depression
  • coma
  • irritability
  • severe mental retardation
  • poor weight gain
  • fatigue
  • boxing and pedaling limb movements
  • brain damage
  • poor appetite
  • muscle rigidity
  • usually fatal within one month

Chromosome

MSUD is caused in

chromosome 1 by a mutation in the DBT gene,

chromosome 6 by a mutation in the BCKDHB gene,

chromosome 7 by a mutation in the DLD gene,

and chromosome 19 by a mutation in the BCKDHA gene.

Type of Mutation

MSUD is gene mutation caused by deletion in chromosome 1, chromosome 6, chromosome 7 and chromosome 19.

Treatment

MSUD can be treated with:

  • careful diet- low protein foods eaten
  • thiamine supplement

MSUD Facts

  • MSUD can be inherited metabolic disorder although it is a recessive trait
  • Discovered by John Menkes, a pediatrician, in 1954
  • MSUD affects an estimated 1 in 185,000 infants worldwide
  • adults and teenagers with MSUD are at high risk of ADHD, depression, and anxiety disorders.

Urine

DIsease

Maple Syrup

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= Maple Syrup Urine Disease

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