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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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Organic Acidaemias

3-Methylcrotonyl CoA Carboxylase Deficiency (3MCC)

Definition
3-methylcrotonyl-CoA carboxylase deficiency (3-MCC) is an inherited autosomal recessive disorder where the body is unable to process certain parts of proteins properly. 3-MCC is an organic acid condition because it can lead to harmful amounts of organic acids and toxins in the body.

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

Prevalence
1:50,000 estimated worldwide.

Treatment
Treatment largely involves restricting protein intake to prevent the build-up of 3-hydroxyisovaleric acid and 3 methylcoronlglycine. Many 3-MCC individuals also require supplements of carnitine.

Support Links & Materials

  Organic Acidaemias 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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