Monitoring - UCD

Monitoring is essential to assess metabolic stability and adequate protein intake. The frequency depends on the child’s metabolic stability and compliance to the management regime.
Younger and more severe patients will require more frequent monitoring, but stable patients can be monitored every 3 – 4 months.

UCD monitoring^1,2	Frequency
Laboratory monitoring: Plasma amino acid profile to ensure adequate protein supplementation, and to decide on essential amino acid supplementation, based on glutamine and arginine levels, argininosuccinic acid (in ASA) and citrulline (in citrullinaemia) and ammonia levels	Each clinic visit
Dietairy intake, specifically on protein intake adequate micronutrient intake, such as Fe, Zn, Cu, Ca, and cobalamine	Each clinic visit
Anthropometrics: Growth (weight, lengt,height, BMI) Waist circumfence from the age of 5 years	Each clinic visit
Clinical examination (eg hair, skin)	Each clinic visit
Vitamin and mineral status	Annual
Quantitative plasma amino acids	Annual
Albumin, prealbumin	Annual
25- dihydroxyvitamin D	Annual
DEXA scan	Baseline DEXA scan at 11 years and repeat every 5 years, in the absence of osteopenia or osteoporosis
Plasma zinc, selenium, ferritin, foci acid, vitamin D	Annual
Essential fatty acids	Annual

References:

Dixon M, MacDonald A, White F, Stafford J. Disorders of Amino Acid Metabolism, Organic Acidaemias and Urea Cycle Disorders. In: Clinical Paediatric Dietetics. 4^th ed: Shaw V. West Sussex: John Wiley & Sons Limited, 2014:381-525: 19914636.
Häberle et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet Journal of Rare Diseases 2012;7:32