Table 7.

Recommended Surveillance for Individuals with Argininosuccinate Lyase Deficiency

Manifestation/
Concern		EvaluationFrequency/Comment
Management of disorder Follow up in a metabolic clinic w/qualified metabolic dietician & clinical biochemical geneticistLab & clinical monitoring frequency depending on metabolic status of the patient. In general:
  • Neonates: every 2 wks
  • Infants age 2 mos-1 yr: every 1-3 mos
  • Children ≥2 yrs: every 3-4 mos
Monitor following changes in medical or dietary prescriptions.
Abnormal amino acid levels Analysis of plasma amino acids to identify deficiency of essential amino acids as well as impending hyperammonemia 1
Hypertension Measurement of blood pressure using appropriate-sized cuff & plotting centile values for age & statureAt each clinic visit
Abnormal liver function Liver function tests (ALT, AST)Every 6-12 mos as required
Abnormal electrolytes Serum electrolyte analysisEvery 1-2 yrs as required

ALT = alanine aminotransferase; AST = aspartate aminotransferase

1.

Early signs of impending hyperammonemic episodes in older individuals include mood changes, headache, lethargy, nausea, vomiting, refusal to feed, ankle clonus, and elevated plasma concentrations of glutamine, alanine, and glycine. Plasma glutamine concentration may rise 48 hours in advance of increases in plasma ammonia concentration in such individuals.

From: Argininosuccinate Lyase Deficiency

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