Table 8.

Recommended Surveillance for Individuals with Arginase Deficiency

Manifestation/MonitoringEvaluationFrequency
Assessment of metabolic
control 		Plasma ammonia, amino acid profile, & nutritional monitoring labsAt least 1x/mo for 1st yr of life; thereafter per metabolic specialist
GuanidinoacetateEvery 6-12 mos
Poor growth Monitor growthAt each visit
Developmental delay Monitor developmental milestonesAt each visit in those age <18 yrs
Neuropsychological testing using age-appropriate standardized assessment batteriesAs needed
Neurologic
deterioration 1 		Neurologic evalAt each visit 2
Persistent hepatic
synthetic function
abnormalities 		Liver function tests 3Every 6-12 mos
Quality of life Standardized quality of life assessment tools for affected persons & parents/caregiversAs needed
1.

Developmental stagnation and/or regression; seizures; spasticity; development of joint contractures

2.

Referral to neurologist, orthopedist, and/or physical therapist as indicated

3.

Albumin, bilirubin, aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase, prothrombin time (PT), and partial thromboplastin time (PTT).

From: Arginase Deficiency

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