Citrullinemia


Citrullinemia

Description, Causes and Risk Factors:

The disorder in which citrulline concentrations in the blood, urine, and cerebrospinal fluid (CSF) are elevated, because of deficiency of argininosuccinate synthetase (ASS); manifested clinically by lethargy, vomiting, ammonia intoxication, and mental retardation with onset usually in infancy; autosomal recessive inheritance, caused by mutation in the ASS gene on chromosome 9 in some patients.

It occurs when an enzyme called argininosuccinate synthetase, is either missing or not working properly. This enzyme job is to help break down certain amino acids and to remove ammonia from the body.

Citrullinemia is inherited as an autosomal recessive disease. Parents of a child with citrullinemia are assumed to be carriers for the disease and have a 1 in 4 (25%) chance, in each pregnancy, of having another child with this condition. Prenatal testing for citrullinemia can be done as early as 10-12 weeks of pregnancy. Genetic counselling to discuss the benefits of prenatal testing options in more detail is recommended.

The exact prevalence is unknown. The disease is more common in Central Canada it affects about 1 in every 43,000 babies.

Citrullinemia

Symptoms:

    Lethargy.

  • Vomiting.

  • Poor appetite.

  • Seizures.

  • Hypotonia.

  • Muscle weakness.

  • Difficulty in breathing.

Diagnosis:

The diagnosis is confirmed by measuring amino acid levels in Blood & urine. Citrulline levels will be elevated in the blood while arginine levels will be low. Orotic acid levels will be elevated in the urine. Enzyme studies may also be helpful in confirming the diagnosis. Diagnostic testing is arranged by specialists at your Regional treatment centre. Genetic testing is available.

Treatment:

A low protein diet and a special medical formula are often recommended in children with citrullinemia. Dietary supplementation with arginine is also recommended. A medication called sodium phenylbutyrate may be considered. Children with citrullinemia should also avoid going long periods without food. This special diet can prevent hyperammonemic episodes and their sequelae. In an acute symptomatic episode, IV glucose and fluids can be given, along with other medications that can help the body to get rid of harmful substances and to decrease the level of ammonia in the blood. Specialists at your regional treatment centre will coordinate treatment.

NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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