Table 9.

Recommended Surveillance for Individuals with Citrullinemia Type I

Manifestation/ConcernEvaluationFrequency
Poor growth
  • Measurement of growth parameters
  • Eval of nutritional status & safety of oral intake
At each visit
Early warning signs
of impending
hyperammonemic
episodes 		Monitor for mood changes, headache, lethargy, nausea, vomiting, refusal to eat, hyperreflexia, & ankle clonus. 1
Nutrition review Dietary assessment (whether by diary or recall) to review adequate/complete nutrition is being received
Nutritional status
monitoring 		Carnitine levels to monitor for secondary carnitine deficiency in patients on sodium benzoate
Plasma amino acids analysis to identify deficiency of EAA, & monitor arginine, citrulline, & EAA supplementation
  • During 1st yr of life: at least every 3 mos
  • In teen/adult yrs: every 6-12 mos, depending on clinical stability
Development Monitor developmental progress & educational needs.At each visit
Musculoskeletal Physical medicine, OT/PT assessment of mobility, self-help skills
Family/Community Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).

EEA = essential amino acids; OT = occupational therapy; PT = physical therapy

1.

This should prompt assessment of (at a minimum) plasma ammonia level, plasma amino acid analysis, and other metabolic labs (electrolytes, glucose level, liver function tests, and complete blood count). Plasma glutamate concentration may rise 48 hours in advance of plasma ammonia concentration.

From: Citrullinemia Type I

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