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Citrullinemia Type 1

Atefa Noorain
Atefa Noorain
July13/ 2016

Citrullinemia is a genetic disorder which causes ammonia and other toxic substances to accumulate in the patient’s blood. When the toxic substances accumulate in the urine, it is referred to as citrullinuria. There are two types of citrullinemia Type 1 and Type 2.

Type 1 citrullinemia is also known as classic citrullinemia and is diagnosed in the early stages of life. Generally infants suffer with classic citrullinemia. Infants suffering with citrullinemia appear normal at birth, but shows visible symptoms as they grow. As the level of ammonia and toxic substances increases in the body the child experience a progressive lack of energy, seizures, vomiting and loss of consciousness. Citrullinemia type 1 can be life threatening in many cases. Few patients suffer from citrullinemia type 1 in later childhood or adulthood. Children who experience citrullinemia in later childhood experience symptoms like partial loss of vision, problems in muscle coordination balance and lethargy. There are few cases that do not show any visible symptoms even after gene mutations.

Type 2 Citrullinemia mainly affect the central nervous system. Type 2 citrullinemia is common in adults. Patients suffering with type 2 citrullinemia experience confusion, abnormal behaviour and seizures. In severe cases type 2 citrullinemia patients goes in coma. The symptoms of type 2 citrullinemia are life threatening and are triggered due to alcohol consumption, certain medications and alcohol.

Symptoms of Type 1 citrullinemia

Babies suffering with type 1 citrullinemia show visible symptoms in few days of birth. Parents can identify the symptoms when the baby is unable to break down the food after eating. The most common symptoms include:

  • Sleeping longer
  • Poor appetite
  • Vomiting
  • Seizures
  • Tiredness
  • Irritability
  • Delayed growth


There are certain enzymes which are required by the body to remove ammonia and other harmful toxins. The food we consume is broken down to smaller substances with the help of enzymes. Enzymes are required by the body to break down proteins and amino acids. Enzyme arginosuccinate synthetase (ASS1) is required to remove ammonia and other harmful toxins.Citrulinemia type 1 patients do not make enough of the arginosuccinate synthetase. Absence or improper functioning of ASS1 leads to accumulation of ammonia and other toxins in the blood and urine of the patients.


Citrullinemia type 1 can be cured in the initial stages. There are 2 methods by which citrullinemia patients can be treated.

  1. Dietary treatments – If the babies are diagnosed with citrullinemia type 1 disease, they need to follow a restricted diet. Parents need to consult the nutritionist to prepare a proper diet chart for their babies. In few cases the babies require special formulated food which needs to be continued in the adulthood.
  2. Medications – Doctors usually prescribe medications to lower the ammonia levels in the blood of the babies. Arginine supplements also helps in controlling the ammonia levels in the blood.

Babies who are left untreated due to lack of attention of parents are at high risk brain damage, coma and death. Babies who are early diagnosed and treated with citrullinemia type 1 show better results. After treatment the growth and development of babies become normal. To avoid the consequences parents are advised to get the citrullinemia type 1 test done in the early stages of birth.

Atefa Noorain
Atefa Noorain

Atefa Noorain, (Microbiologist) former Head of the Department of Life Sciences, Assistant Professor of Microbiology at Sujatha Degree College for Women. She worked as an Associate Research Analyst at Thomson Reuters and an Associate Editor of two research journals. She has presented her research work in 3 International Conferences. She has written articles for national journals and international journals. She had been felicitated as a Young Speaker in the last conference. She has worked on Nanoparticles as a part of her research project and won the Best Scientist of the Day award.

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