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Metabolic Dietary Disorders Association (MDDA) Metabolic Dietary Disorders Association (MDDA) - Ensuring all IEM's have informed choices and a better quality of life.
Metabolic Dietary Disorders Association (MDDA)

Ensuring all IEM's have informed choices and a better quality of life.

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Amino Acid Disorders

Maple Syrup Urine Disease (MSUD)

Definition
Maple syrup urine disease is an autosomal recessive inherited disorder based on a genetic mutation of the branched-chain 2-ketoacid dehydrogenase complex, which is responsible for the metabolism of the essential branched-chain amino acids leucine, isoleucine and valine. This causes an accumulation of these amino acids, along with severe neurological damage. As a result of the toxic metabolites produced the urine has a sweet smell which is the origin of the name maple syrup urine disease.

Diagnosis
The condition is diagnosed during newborn screening via the heel prick test taken 48-72 hours after birth.

Prevalence
1:150,000 babies born in Australia and New Zealand.

Treatment
MSUD is treated using a restricted low-protein diet and amino acid supplement free of branched-chain amino acids.

In the event of early diagnosis (newborn screening) and life-long treatment, most patients are able to remain in good health.

Support Links & Materials

  Maple Syrup Urine Disease (MSUD) Handbook

TEMPLE Resource – Maple Syrup Urine Disease (MSUD) Book

TEMPLE Resource – Maple Syrup Urine Disease (MSUD) Video

Amino Acid Disorders

  Phenylketonuria (PKU)
  Tyrosinaemia Type 1 & 2 (TYRO)
  Maple Syrup Urine Disease (MSUD)
  Homocystinuria (HCU)

Urea Cycle Disorders (UCD)

  Ornithine Transcarbamylase Deficiency (OTC)
  Citrullinaemia
  Argininosuccinic Acidaemia (ASA)
  Arginase Deficiency (ARG)

Organic Acidaemias

  Glutaric Acidaemia Type 1 & 2 (GA1) & (GA2)
  Methylmalonic Aciduria (MMA)
  Propionic Acidaemia (PA)
 3-Methylcrotonyl CoA Carboxylase Deficiency (3MCC)
Isovaleric Aciduria (IVA)

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