标题：Growth and Nutritional Status of Children with Urea Cycle Defects (UCD): A 6-months Follow up Study in Institute of Pediatric, Hospital Kuala Lumpur
摘要：Poor growth has always interlinked with urea cycle defects children who require life-long protein restricted diet. Studies have proposed the prolonged restriction on essential amino acid could cause the damage especially malnutrition, which make the patient susceptible to infections and immune deficiencies, events that can become even more dangerous than the original disease. By far there is no study reported in the context of nutritional status among children with Urea Cycle Defects (UCD), who receiving active regular medical and dietary treatment. Hence, the aim of this single-center 6-months follow-up study was to determine nutritional status of children diagnosed with UCD. A total of 22 children with UCD, aged from 1 to 12 years old (mean: 6.04±2.40) undergoing active regular treatment in Institute of Pediatrics were recruited. Body height, weight, and head circumference were measured for anthropometry whereas total protein, albumin and plasma amino acid profile were investigated for biochemical aspects. Clinical features diagnosed by pediatrician were recorded from children's medical record. 24 hour dietary recall was conducted to measure their nutrients intake. All assessments were repeated at 6-month interval except clinical profile. Overall, there were no significant differences p>0.05 in means of z-scores of all nutritional parameters from baseline to end of the visit. There was suggestive of a prominence in growth stunting (67; 61%), undernutrition (44; 30%) and microcephalic (33; 33%) among children with UCD. Biochemical indicators such as citrulline, albumin and total protein (only during follow up) were significantly (p<0.05) higher than the reference value, however, in this case, only citrulline (529±888; 573±883 µmol/L) require more attention from physician. Intellectual disability was the most frequently (71%) presenting sign and symptoms among UCD children. The present finding also did not found intake of any macro and micronutrients that fall short of recommended intake judging from the figures reported from combination of both resources (>100% RNI) in both visits except intake of vitamin A, B3, and C from natural food were significant lower (p<0.05) during follow up. In conclusion, all these findings indicated that UCD children are definitely at risk of malnutrition and regular nutritional assessment and monitoring should always emphasised for optimal linear growth without affecting their amino acid profiles.
关键词：Inborn Errors Metabolism; Urea Cycle Defects; nutritional status; Hospital Kuala Lumpur
