Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy

Background Insufficient metabolic control during pregnancy of mothers with phenylketonuria (PKU) leads to maternal PKU syndrome, a severe embryo-/fetopathy. Since maintaining or reintroducing the strict phenylalanine (Phe) limited diet in adults with PKU is challenging, we evaluated the most important dietary and psychosocial factors to gain and sustain good metabolic control in phenylketonuric women throughout pregnancy by a questionnaire survey with 38 questions concerning therapy feasibility. Among them, the key questions covered 5 essential items of PKU care as follows: General information about maternal PKU, PKU training, diet implementation, individual metabolic care, personal support. In addition, all participating PKU mothers were asked to estimate the quality of their personal metabolic control of the concluded pregnancies. 54 PKU mothers with 81 pregnancies were approached at 12 metabolic centers in Germany and Austria were included. According to metabolic control, pregnancies of PKU women were divided in two groups: group “ideal” (not more than 5% of all blood Phe concentrations during pregnancy > 360 µmol/l; n = 23) and group “suboptimal” (all others; n = 51). Results The demand for support was equally distributed among groups, concerning both amount and content. Personal support by the direct social environment (partner, family and friends) (“suboptimal” 71% vs “ideal” 78%) as well as individual metabolic care by the specialized metabolic center (both groups around 60%) were rated as most important factors. The groups differed significantly with respect to the estimation of the quality of their metabolic situation (p < 0.001). Group “ideal” presented a 100% realistic self-assessment. In contrast, group “suboptimal” overestimated their metabolic control in 53% of the pregnancies. Offspring of group “suboptimal” showed clinical signs of maternal PKU-syndrome in 27%. Conclusion The development of training programs by specialized metabolic centers for females with PKU in child bearing age is crucial, especially since those mothers at risk of giving birth to a child with maternal PKU syndrome are not aware of their suboptimal metabolic control. Such programs should provide specific awareness training for the own metabolic situation and should include partners and families.

Good Metabolic Control in Children with Type 1 Diabetes Mellitus: Does Glycated Hemoglobin Correlate with Interstitial Glucose Monitoring Using FreeStyle Libre?

Background: Good metabolic control of Type 1 diabetes (T1D) leads to a reduction in complications. The only validated parameter for establishing the degree of control is glycated hemoglobin (HbA1c). We examined the relationship between HbA1c and a continuous glucose monitoring (CGM) system. Materials and methods: A cohort prospective study with 191 pediatric patients with T1D was conducted. Time in range (TIR), time below range (TBR), coefficient of variation (CV), number of capillary blood glucose tests, and HbA1c before sensor insertion and at one year of use were collected. Results: Patients were classified into five groups according to HbA1c at one year of using CGM. They performed fewer capillary blood glucose test at one year using CGM (−6 +/− 2, p < 0.0001). We found statistically significant differences in TIR between categories. Although groups with HbA1c < 6.5% and HbA1c 6.5–7% had the highest TIR (62.214 and 50.462%), their values were highly below optimal control according to CGM consensus. Groups with TBR < 5% were those with HbA1c between 6.5% and 8%. Conclusions: In our study, groups classified as well-controlled by guidelines were not consistent with good control according to the CGM consensus criteria. HbA1c should not be considered as the only parameter for metabolic control. CGM parameters allow individualized targets.

Mental and somatic health in university students with type 1 diabetes: new results from DiaSHoT18, a cross sectional national health and well-being survey

Objectives To explore mental and somatic health, quality of life, alcohol-related problems, sleep problems, and diabetes related distress in university students with type 1 diabetes (T1D), compared to students without T1D. Further, we evaluated associations with gender, treatment modalities, and achieved metabolic control. Methods All fulltime Norwegian students aged 18–35 years pursuing higher education in 2018 (n=162.512) were invited into a comprehensive national survey on health and well-being. Students that stated having diabetes was asked further questions about their diabetes care. Results Of 49,684 participating students, 324 participants stated having T1D. Students with T1D did not show more mental or somatic health symptoms, or report a higher level of loneliness. However, T1D was significantly associated with lower quality of life (QoL). Students with good metabolic control reached the same QoL as students without T1D. Mental disorders and suicidality were associated with lacking metabolic control. The proportion of unhealthy drinking habits was generally low, and even lower in students with T1D. Sleeping patterns were generally good, but students using continuous glucose measurement were awakening more often during sleep. Females with T1D showed higher levels of diabetes related problems and distress, but good metabolic control was associated with lower diabetes distress level. Conclusions Students with T1D scored equally on most mental and somatic health scales. Their quality of life was significantly worse compared to their healthy peers. Knowledge on the impact of metabolic control, gender and the use of CSII and CGM can be valuable for the caretakers of young adults with T1D.

Morning specimen is not representative of metabolic control in Tunisian children with phenylketonuria: a repeated cross-sectional study

Objective and methodsTo evaluate variation of capillary phenylalanine concentrations over the day in patients treated for phenylketonuria and the reliability of the morning sample to assess metabolic control, we conducted a repeated cross-sectional study in 25 Tunisian patients on phenylalanine-low diet. For each patient, we collected nine capillary samples over the day. Phenylalanine was dosed by fluorimetry.ResultsThere was a wide variability of phenylalanine concentrations over the day (p<0.001). Compared to morning sample, phenylalanine concentration was significantly lower before lunch (p=0.038), after lunch (p=0.025), before dinner (p<0.001), after dinner (p=0.035) and at 4:00 a.m. (p=0.011). Compared to the 24 h sampling, the morning sample had a 68% to identify unbalanced patients. 60% of patients, had peak phenylalanine concentration after the morning. Half of the patients with normal morning phenylalanine concentration had low phenylalanine values over 8–20 h. Percentages of high phenylalanine concentrations over the last semester were higher in patients with poor metabolic control over the 24 h (21% ± 43 vs. 0% ± 9%); p=0.043.ConclusionA single morning sample gives an incomplete information on metabolic control in phenylketonuric patients. Using four pre-prandial samples on the day should be considered as alternative in patients with good metabolic control.

Effect of use of insulin pump with low glucose suspend feature on metabolic control in children with type 1diabetes

Introduction. The automatic suspension of the insulin pump and discontinuationof insulin delivery in case of hypoglycemia is one of the features ofVeo insulin pump when it is connected with the sensor used for continuousmonitoring of glycemia (CGM). This type of therapy is currently consideredto be the best one for achieving a good metabolic control in children withtype 1 diabetes mellitus. The objective of the study was to check whetherthe use of an option for automatic suspension in case of hypoglycemia andcombined bolus affects the metabolic control in children with type 1 diabetesmellitus using the insulin pump for a three-month period.Methods. The study included 25 participants (13 girls and 12 boys), aged7 to 15 years with average age 11.88 ± 3.15 years and average diabetes durationof 6.12 ± 2.5 years. On average, the participants have already beenusing the insulin pump Paradigm Veo TM MMT-754 for 3.08 ± 1.73 years.The measurements of HbA1c were done at the beginning of the study, thenafter three and six months.Results. The percentage of glucose serum levels above 7.8 mmol/L insignificantlyincreased, while the percentage of glucose serum levels below3.9 mmol/L decreased during the three-month period of CGM wearing.The initial HbA1c was 7.53 ± 0.87%. After three months of wearing, CGMHbA1c showed a slight decrease to 7.48 ± 0.73%, while at the follow-up afteranother three months without CGM HbA1c increased to 7.57 ± 0.98%.Conclusion. This study shows that the use of an insulin pump with the optionof automatic suspension in case of hypoglycemia and combined bolusis only associated with a certain improvement in the metabolic controlafter three months of continuous wearing without increasing the risk ofhypoglycemia.

Exercise, physical activity, and diabetes mellitus

The main aim for the diabetic child is to live as normal a life as possible via four main targets of management: obtaining good metabolic control, preventing long-term complications, promoting social competence, and self-worth. The main challenges are that the child must receive appropriate insulin subcutaneously and there must be attention given to lifestyle. Participation in sports not only helps to reach those targets, but also forms a great challenge in maintaining good metabolic control as physical activity has an impact on glucose utilization. This chapter discusses the definition of diabetes mellitus, the diagnostic criteria, the aetiology, and the clinical spectrum, as well as all the practical aspects encountered by the child with diabetes mellitus and his/her care givers and how it all relates to sports and physical activity. Finally, it covers strategies to optimize performance and prevent complications.