Appendix A
In 2013, we analyzed data from 42 patients and subsequently discussed dietary therapy and monitoring during a workshop. 11 dietitians/nutritionists from pediatric units as well as 2 pediatricians specialized in the care for patients with Tyr 1 from Germany, Switzerland and Austria (DACH-region) participated in the workshop. The year of birth of patients ranged from 1988 to 2013. 28 male patients and 14 female patients were included.
Mean age at diagnosis was 5.26 months +/−6.48 months (min-max; median: 0–24 months; 2.29 months). Consanguinity was reported in 14 cases. 28 patients had a migration background. 20 patients visited a regular school, whereas 7 patients received special education. Patients had 4.19 +/−3.14 dietitian contacts per year (min-max; median: 1–16 per year, 3 per year). Concomitant diseases were observed in 13 patients, in four cases neurological diseases/problems were found (Friedreich ataxia, epilepsy, reading difficulties, developmental retardation); one patient had ophthalmological symptoms. 3 patients underwent liver transplantation (age at transplantation: 24, range 116 and 256 months of age). The mean age at start of NTBC treatment was 9.2 months +/−20.24 (min–max: 0–115). No data were available in 5 cases. Adherence to diet was found in 23 patients below the age of 7 years, 8 families did not consistently stick to diet, and one case was not compliant.
6 patients beyond the age of 7 years showed no compliance, whereas in 13 cases an inconsistent adherence to the diet was observed. 7 children at age beyond 7 years regularly adhered to diet. Protein intake depended on age.
Table A1 and
Table A2 show age-related intake of natural protein and amino acid mixture, respectively.
Table A1.
Daily protein intake via natural protein (g/kg body weight).
Table A1.
Daily protein intake via natural protein (g/kg body weight).
Age Interval | n | Mean Value +/− Standard Deviation | Minimum | Maximum |
---|
0–4 months | 11 | 0.84 +/− 0.44 | 0.2 | 1.8 |
4–12 months | 35 | 0.90 +/− 0.31 | 0.4 | 1.8 |
1–6 years | 30 | 0.76 +/− 0.23 | 0.3 | 1.2 |
6–14 years | 19 | 0.72 +/− 0.29 | 0.3 | 1.3 |
>14 years | 5 | 0.33 +/− 0.11 | 0.2 | 0.5 |
Table A2.
Daily protein intake via amino acid mixture (g/kg body weight).
Table A2.
Daily protein intake via amino acid mixture (g/kg body weight).
Age Interval | n | Mean Value +/− Standard Deviation | Minimum | Maximum |
---|
0–4 months | 11 | 1.1 +/− 0.27 | 0.8 | 1.7 |
4–12 months | 34 | 1.12 +/− 0.44 | 0.2 | 2.38 |
1–6 years | 31 | 1 +/− 0.37 | 0.55 | 2.5 |
6–14 years | 22 | 0.69 +/− 0.31 | 0.15 | 1.2 |
>14 years | 7 | 0.45 +/− 0.25 | 0.13 | 0.8 |
Regular intake of nitisinone was reported in 35/42 patients, 5 patients showed an irregular intake of nitisinone, and one patient showed no compliance with medication. The workshop participants worked out a standardized recommendation concerning dietary treatment of Tyr 1. They agreed, that families and patients should be encouraged not to calculate tyrosine, phenylalanine or protein intake. Weighing out food and calculating tyrosine and protein intake were agreed not to be necessary if appropriate food is chosen and amino acid mixture is taken regularly. There was consensus that meat, sausages, eggs are inappropriate, whereas butter, oil, cream, crème fraiche, sour cream, vegetables, fruits, low-protein bread, pasta, pastries as well as low-protein milk are regarded as appropriate. There was no general consensus on normal milk, yoghurt, cheese, normal bread, and pastries, legumes, nuts and seeds, so it was agreed that these may be taken occasionally.
In 10/39 cases, families did not calculate tyrosine, whereas no patient calculated phenylalanine intake. In 17/39 families, food was weighed and calculated and 9 families stated to calculate protein intake (
Figure A1a,b). 19/39 cases divided amino acid mixture in 3 portions. Two patients took the amino acid mixture in a single portion, whereas 14 patients divided the daily intake in two portions.
Figure A1.
Weighing and calculation of food.
Figure A1.
Weighing and calculation of food.
Special low-protein products were taken by 15 patients regularly. 15 patients stated to take them irregularly, whereas 6 patients rarely or never used low-protein products (
Figure A2). Normal bread was eaten by 21 patients, 11 patients consumed normal bread irregularly and 7 rarely or never ate normal bread. Normal pastries were taken rarely or never by 18 patients, 11 patients took normal pastries regularly and 7 cases irregularly. 25 patients consumed protein-rich food rarely or never while 3 patients ate it regularly and 11 families admitted an irregular intake (
Figure A3).
Figure A2.
Intake of low-protein food.
Figure A2.
Intake of low-protein food.
Figure A3.
Intake of inappropriate food.
Figure A3.
Intake of inappropriate food.
Adherence to diet was found in 23 patients below the age of 7 years, 8 families did not consistently stick to diet and one case was not compliant. 6 patients beyond the age of 7 years showed no compliance, whereas in 13 cases an inconsistent adherence to diet was observed. 7 children older than 7 years of age regularly adhered to the diet. Regular intake of nitisinone was reported in 35/42 patients, 5 patients showed an irregular intake of nitisinone and one patient had no compliance towards medication (
Figure A4).
Figure A4.
Adherence to diet and medication.
Figure A4.
Adherence to diet and medication.