RÉSUMÉ
The Metabolic Dietetic Team in the National Centre for Inherited Metabolic Disorders (NCIMD) in Ireland deals with approximately 120 weekly phenylalanine (Phe) levels for both adults and children. A review of 500 Phe levels highlighted that 52% of the results were within the target range. Collaboration between information and communication technologies (ICT) departments, metabolic laboratory, and metabolic dietitians enabled the development of the PKU texting system. Following a successful pilot study, the system was then offered to all PKU patients aged over 2 years. The Phe is analysed and authorised on the laboratory system. The demographics are matched with the patient mobile phone number. Text messages are then validated and sent by the dietitian via a web portal using the Defero SMS texting service. Approximately 290 patients/families currently use the texting system. In order to assess the effectiveness of this quality improvement initiative, a patient survey was carried out in 2017. This showed 87% rated the system as either very good or excellent. 94% agreed it was time saving. 84% felt there was no influence on dietary compliance. Analysis of financial implications on dietetic time over 21 months revealed savings of 3,275 and 580 hours of dietetic time. There is no evidence, two years after implementation, that the system has had an effect on either the Phe levels in terms of recommended range or frequency of sampling.
RÉSUMÉ
A low methionine diet is the mainstay of treatment for pyridoxine nonresponsive homocystinuria (HCU). There are various guidelines for recommended protein intakes for HCU and clinical practice varies. Poor growth has been associated with low cystine levels. This retrospective review of 48 Irish pyridoxine nonresponsive HCU patients assessed weight, height, body mass index (BMI), protein intake, and metabolic control up to 18 years at nine set time points. Patients diagnosed through newborn screening (NBS) were compared to late diagnosed (LD) patients. At 18 years the LD group (n = 12, mean age at diagnosis 5.09 years) were heavier (estimated effect +4.97 Kg, P = 0.0058) and taller (estimated effect +7.97 cm P = 0.0204) than the NBS group (n = 36). There was no difference in growth rate between the groups after 10 years of age. The HCU population were heavier and taller than the general population by one standard deviation with no difference in BMI. There was no association between intermittently low cystine levels and height. Three protein intake guidelines were compared; there was no difference in adult height between those who met the lowest of the guidelines (Genetic Metabolic Dietitians International) and those with a higher protein intake.