Argininosuccinate Lyase Deficiency Follow-up
- Author: Karl S Roth, MD; Chief Editor: Maria Descartes, MD more...
Further Outpatient Care
Under no circumstances should a patient with a urea cycle defect be cared for exclusively by a primary care provider.
Consult with a biochemical geneticist/metabolic disease specialist who is skilled in treating urea cycle diseases when treating patients with argininosuccinate (ASA) lyase deficiency.
Frequent dietary and medication adjustments are essential, especially in growing infants, and should be made only with quantitative monitoring of plasma amino acid levels.
Close attention to dietary intake and adjustments is a critical part of management and should involve the help of a highly trained nutritionist.
Using chorionic villus sampling, prenatal diagnosis is possible as early as 11-12 weeks’ gestation. It is essential to establish the nature of the mutation in the parents first, given the large number of private mutations known to occur. This should be discussed with any family with one or more affected first-degree relatives.
Untreated patients may develop cerebral edema and die, and some patients die despite treatment.
Mental retardation is a common sequela.
Prognosis is guarded.
Although intellectual impairment is the rule, even among patients who receive excellent and timely treatment, some patients with ASA lyase deficiency reportedly develop normally.
Advise parents of an affected infant that they are obligate heterozygotes because the disease is inherited as an autosomal recessive trait. This trait leads to a recurrence risk of 1:4 (25%) with each subsequent pregnancy.
Prenatal diagnosis is available for ASA lyase deficiency, although the involved diagnostic procedures are not trivial. Even in cases in which elective abortion is not an option, parents should be prepared for an affected infant in order to avoid early hyperammonemia.
Advise parents to scrupulously follow the dietary and medication instructions and to seek early medical attention for all intercurrent illnesses.
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