Everyday Life, Dietary Practices, and Health Conditions of Adult PKU Patients: A Multicenter, Cross-Sectional Study.

BACKGROUND: Only few data on dietary management of adult phenylketonuria (PKU) patients are published. OBJECTIVES: This study aimed to assess living situation, dietary practices, and health conditions of early-treated adult PKU patients. METHODS: A total of 183 early-treated PKU patients ≥18 years from 8 German metabolic centers received access to an online survey, containing 91 questions on sociodemographic data, dietary habits, and health conditions. RESULTS: 144/183 patients (66% females) completed the questionnaire. Compared with German population, the proportion of single-person households was higher (22 vs. 47%), the rate of childbirth was lower (1.34 vs. 0.4%), but educational and professional status did not differ. 82% of the patients adhered to a low-protein diet, 45% consumed modified low-protein food almost daily, and 84% took amino acid mixtures regularly. 48% of the patients never interrupted diet, and 14% stopped diet permanently. 69% of the patients reported to feel better with diet, and 91% considered their quality of life at least as good. The prevalence of depressive symptoms was high (29%) and correlated significantly to phenylalanine blood concentrations (p = 0.046). However, depressive symptoms were only mild in the majority of patients. CONCLUSION: This group of early-treated adult German PKU patients is socially well integrated, reveals a surprisingly high adherence to diet and amino acid intake, and considers the restrictions of diet to their daily life as low.

A practical approach to low protein diets for patients with chronic kidney disease in Cameroon.

Cameroon is a low-middle income country with a rich diversity of culture and cuisine. Chronic kidney disease (CKD) is common in Cameroon and over 80 % of patients present late for care, precluding the use of therapies such as low protein diets (LPDs) that slow its progression. Moreover, the prescription of LPDs is challenging in Cameroon because dieticians are scarce, there are no renal dieticians, and people often have to fund their own healthcare. The few nephrologists that provide care for CKD patients have limited expertise in LPD design. Therefore, only moderate LPDs of 0.6 g protein per kg bodyweight per day, or relatively mild LPDs of 0.7-0.8 g protein per kg bodyweight per day are prescribed. The moderate LPD is prescribed to patients with stage 3 or 4 CKD with non-nephrotic proteinuria, no evidence of malnutrition and no interrcurrent acute illnesses. The mild LPD is prescribed to patients with stage 3 or 4 CKD with nephrotic proteinuria, non-symptomatic stage 5 CKD patients or stage 5 CKD patients on non-dialysis treatment. In the absence of local sources of amino and keto acid supplements, traditional mixed LPDs are used. For patients with limited and sporadic access to animal proteins, the prescribed LPDs do not restrict vegetable proteins, but limit intake of animal proteins (when available) to 70 % of total daily protein intake. For those with better access to animal proteins, the prescribed LPDs limit intake of animal proteins to 50-70 % of total daily protein intake, depending on their meal plan. Images of 100 g portions of meat, fish and readily available composite meals serve as visual guides of quantities for patients. Nutritional status is assessed before LPD prescription and during follow up using a subjective global assessment and serum albumin. In conclusion, LPDs are underutilised and challenging to prescribe in Cameroon because of weakness in the health system, the rarity of dieticians, a wide diversity of dietary habits, the limited nutritional expertise of nephrologists and the unavailability of amino and keto acid supplements.

North American experience with Low protein diet for Non-dialysis-dependent chronic kidney disease.

Whereas in many parts of the world a low protein diet (LPD, 0.6-0.8 g/kg/day) is routinely prescribed for the management of patients with non-dialysis-dependent chronic kidney disease (CKD), this practice is infrequent in North America. The historical underpinnings related to LPD in the USA including the non-conclusive results of the Modification of Diet in Renal Disease Study may have played a role. Overall trends to initiate dialysis earlier in the course of CKD in the US allowed less time for LPD prescription. The usual dietary intake in the US includes high dietary protein content, which is in sharp contradistinction to that of a LPD. The fear of engendering or worsening protein-energy wasting may be an important handicap as suggested by a pilot survey of US nephrologists; nevertheless, there is also potential interest and enthusiasm in gaining further insight regarding LPD's utility in both research and in practice. Racial/ethnic disparities in the US and patients' adherence are additional challenges. Adherence should be monitored by well-trained dietitians by means of both dietary assessment techniques and 24-h urine collections to estimate dietary protein intake using urinary urea nitrogen (UUN). While keto-analogues are not currently available in the USA, there are other oral nutritional supplements for the provision of high-biologic-value proteins along with dietary energy intake of 30-35 Cal/kg/day available. Different treatment strategies related to dietary intake may help circumvent the protein- energy wasting apprehension and offer novel conservative approaches for CKD management in North America.

[Diagnosis and treatment of isolated methylmalonic acidemia].

OBJECTIVE: To explore the clinical feature, therapeutic effect and prognosis of isolated methylmalonic acidemia. METHODS: The clinical characteristics, laboratory findings, treatment and outcome of 40 patients were retrospectively analyzed. The main treatment was a low-protein diet supplemented with L-carnitine and special milk free of leucine, valine, threonine and methionine. Vitamin B12 was also given to cobalamin responders. The patients were followed up every 1-3 months. RESULTS: Mutations in the MUT gene were identified in 30 of 33 patients who had accepted DNA testing. Thirty cases were treated and followed up regularly for from 1 month to 8 years. Eight cases had died, 8 had developed normal intelligence, among whom 4 from newborn screening were asymptomatic. Psychomotor developmental delay and mental retardation were present in 14 cases. The propionylcarnitine level, ratio of propionylcarnitine/acetylcarnitine in blood, methylmalonic acid and methylcitric acid levels in urine have decreased significantly, with the median values reduced respectively from 24.15 (7.92-81.02) µmol/L, 1.08 (0.38-6.01), 705.34 (113.79-3078.60) and 7.71 (0.52-128.21) to 10.50 (3.00-30.92) µmol/L, 0.63 (0.25-2.89), 166.23 (22.40-3322.21) and 3.96 (0.94-119.13) (P < 0.05). CONCLUSION: The prognosis of isolated methylmalonic acidemia may be predicted with the enzymatic subgroup, age at onset and cobalamin responsiveness. Outcome is unfavorable in neonatal patients and those who were non-responsive to cobalamin.

[Less use of alternative treatments by cancer patients in 2002 than in 1999]. / Minder gebruik van alternatieve behandelingen door kankerpatiënten in 2002 dan in 1999.

OBJECTIVE: To determine the use of alternative diets and other alternative treatments in 2002 compared to 1999. DESIGN: Descriptive, questionnaire. METHOD: During the period 13-26 May 2002 a survey was held among all patients visiting the outpatient clinic of the Netherlands Cancer Institute/Antoni van Leeuwenhoek hospital, Amsterdam, the Netherlands. Patients were asked about their current and past use of alternative therapies, their reasons for using these therapies, the way they were informed about these therapies and the expenses involved. The data were compared with the results of a similar study during the period 15-19 March 1999. RESULTS: Of the 729 patients who fulfilled the inclusion criteria, 66 (9%) declined to participate in the study. Of the remaining 663 patients (average age 58.5 years; 28% male), 131 (20%) used an alternative therapy. Of these, 43 patients (7%) used an alternative diet, mainly the Houtsmuller diet, and 88 patients (13%) used a mixture of alternative therapies such as homeopathy, vitamins and herbs. In 1999, 131 patients (30%) used an alternative form of treatment, 51 (13%) of whom used a diet. Of the 43 users of diets in 2002, 11 (26%) believed that the diet would slow down the disease process; in 1999 this was 53% (27/51). Of the 131 users of alternative therapies in 2002, 55% had been made aware of the possibilities of alternative treatments via family and friends. Internet and TV played a minor role as a source of information. 33 (79%) of the diet users informed their physician or nurse about the use. The diet users spent an average of 170 euro per month on their diets. CONCLUSION: Both the percentage of cancer patients who used an alternative diet and the percentage of diet users who believed that a diet could affect the course of the disease were reduced by half compared to three years earlier.