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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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Urea Cycle Disorders

Citrullinaemia

Definition
Citrullinaemia is an autosomal recessive disorder. Citrullinaemia is caused by mutations in the ASS1 gene that is responsible for production of the argininosuccinate synthetase (ASS) enzyme. The symptoms of Citrullinaemia develop due to deficiency of this enzyme, which is needed to detoxify ammonia in the body. Failure to properly remove ammonia via synthesis of urea leads to the abnormal accumulation of ammonia in the blood (hyperammonemia).

Diagnosis
The condition is diagnosed during newborn screening via the heel prick test taken 48-72 hours after birth. Diagnosis can also be made when symptoms present.

Prevalence
1:57,000 estimated worldwide.

Treatment
The treatment of Citrullinaemia is aimed at preventing excessive ammonia from being formed or for removing excessive ammonia during a hyperammonemic episode. A low protein, high calorie diet supplemented by essential amino acids, multiple vitamins and calcium supplements may also be used. Dietary restrictions are aimed at limiting the amount of protein intake to avoid the development of excess ammonia. Prompt treatment is necessary when individuals have extremely high ammonia levels (severe hyperammonemic episode). Prompt treatment can avoid hyperammonemic coma and associated neurological symptoms. However, in some cases, especially those with complete enzyme deficiency, prompt treatment will not prevent recurrent episodes of hyperammonemia and the potential development of serious complications.

Support Links & Materials

  Urea Cycle Disorders 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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