Arginase Deficiency Follow-up
- Author: Karl S Roth, MD; Chief Editor: Maria Descartes, MD more...
Further Outpatient Care
A biochemical geneticist, a metabolic disease specialist, or both should guide the management of arginase deficiency, as with all urea cycle disorders.
Nutritional management is the mainstay of treatment and should be carried out under the scrutiny of a highly trained nutritionist.
Closely monitor affected individuals for growth and plasma amino acid levels; under no circumstances should a child with arginase deficiency be cared for by a primary care provider alone.
Prenatal diagnosis can be performed using DNA analysis.
Recent experience with tandem mass spectrometric newborn screening technique has permitted early identification and treatment. Infants treated in this fashion have thus far done well and remained healthy.
In view of the relatively subtle and progressive presentation, patient rarely escape irreversible damage to the CNS. Nonetheless, early diagnosis in the clinical course allows for improved outcome.
Even in patients who receive a late diagnosis, treatment from birth in a subsequent infant of an affected family should prevent the developmental delay and the spasticity, based on more recent experience.
Advise parents of an affected child of their obligate heterozygote status.
Adherence to a low-protein diet is imperative; stress the importance to long-term outcome.
Seek early medical attention for intercurrent illnesses because hyperammonemic crisis, although uncommon in this disease, can occur.
Prenatal diagnosis is possible with an enzyme assay using fetal RBCs; arginase mutations have been identified in skin fibroblasts from amniotic fluid and specimens from chorionic villus biopsies.
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