Ketoacid Decarboxylase Deficiency

It is feasible that the major title of the record Maple Syrup Urine Disease is not the name you anticipated. Kindly inspect the words specifying to encounter the alternative name(s) and also condition neighborhood(s) covered by this record.


  • BCKD Deficiency
  • Branched Chain Alpha-Ketoacid Dehydrogenase Deficiency
  • Branched Chain Ketonuria I
  • Classical Maple Syrup Urine Disease
  • MSUD

Problem Subdivisions

  • Recurring Maple Syrup Urine Disease
  • Intermediate Maple Syrup Urine Disease
  • Thiamine-Responsive Maple Syrup Urine Disease
  • Traditional Maple Syrup Urine Disease

General Discussion
Maple syrup pee illness (MSUD) is an uncommon hereditary condition defined by shortage of particular enzymes (branched-chain alpha-keto acid dehydrogenase complicated) needed to failure (metabolize) certain amino acids in the physical body. Such buildup could trigger a range of signs consisting of sleepiness, impatience, inadequate eating, uncommon motions and also an unique smell of maple syrup in the earwax (cerumen), sweat and also pee of afflicted people. The problem could be effectively handled with a specialized diet regimen.

Some scientists consist of a 5th subtype, although various other scientists consider this a different unique condition. The different subtypes of MSUD have various degrees of recurring enzyme task, various intensity, as well as various ages of beginning.

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