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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

Tyrosinaemia Type 1 & 2 (TYRO)

Definition
Tyrosinaemia is an autosomal recessive inherited disorder in which the body cannot effectively break down the amino acid tyrosine. Levels of tyrosine and other harmful metabolites can build up in the blood and cause damage to the body.

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

Prevalence
1:100,000 estimated worldwide

Treatment
Tyrosinaemia type I is treated using the administration of nitisinone (NTBC), a protein restricted diet and amino acid supplements free from phenylalanine and tyrosine. Treatment with nitisinone has reduced the need for liver transplantation and combined with a low-protein diet allows most patients to remain in good health.

Tyrosinaemia type II is treated using a low protein diet and amino acid supplements free from phenylalanine and tyrosine.

When tyrosinaemia is detected early and treated, children are able to remain in good health.

Support Links & Materials

  Tyrosinaemia Handbook

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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