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X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. We audited the diagnosis and management of OTCD, using an online 12-question-survey that was sent to 75 metabolic centres in Turkey, France and the UK. Thirty-nine centres responded and 495 patients were reported in total. A total of 208 French patients were reported, including 71 (34%) males, 86 (41%) symptomatic and 51 (25%) asymptomatic females. Eighty-five Turkish patients included 32 (38%) males, 39 (46%) symptomatic and 14 (16%) asymptomatic females. Out of the 202 UK patients, 66 (33%) were male, 83 (41%) asymptomatic and 53 (26%) symptomatic females. A total of 19%, 12% and 7% of the patients presented with a neonatal-onset phenotype in France, Turkey and the UK, respectively. Vomiting, altered mental status and encephalopathy were the most common initial symptoms in all three countries. While 69% in France and 79% in Turkey were receiving protein restriction, 42% were on a protein-restricted diet in the UK. A total of 76%, 47% and 33% of patients were treated with ammonia scavengers in Turkey, France and the UK, respectively. The findings of our audit emphasize the differences and similarities in manifestations and management practices in three countries., Medical Research Council [MR/S019111/1]; National Institute of Health Research Senior Investigator Award [NIHR202370]; Medical Research Council Clinician Scientist Fellowship [MR/T008024/1]; NIHR Great Ormond Street Hospital Biomedical Research Centre, This work was supported by the Medical Research Council grant, reference: MR/S019111/1. PG is supported by a National Institute of Health Research Senior Investigator Award (Reference NIHR202370). J.B. is supported by Medical Research Council Clinician Scientist Fellowship MR/T008024/1 and NIHR Great Ormond Street Hospital Biomedical Research Centre. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health.

Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by deficiency of sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. This multicenter, cross-sectional descriptive study aimed to document clinical characteristics of CTX patients of different ages, clinical presentations of early-diagnosed patients, and responses to short-term chenodeoxycholic acid (CDCA) treatment. Seven of 11 CTX patients were diagnosed in childhood. Three patients (27%) had neonatal cholestasis, seven (63%) patients had a history of frequent watery defecation started in infantile period, and eight (72.7%) patients had juvenile cataract. Four patients in the adult age group had pyramidal signs and parkinsonism symptoms. The mean Mignarri score at diagnosis was significantly lower in the pediatric patients (267.8 ± 51.4) than in the adult patients (450.0 ± 64.0, p = 0.001). No significant difference was determined between pediatric patients and adult patients regarding plasma cholestanol concentration at diagnosis (p = 0.482). The frequency of defecation decreased with treatment in six children, who had diarrhea at admission. Compared to pretreatment values, patients' body weight and standardized body mass index significantly increased at the 12th month of treatment. In conclusion, Mignarri scores are lower in the pediatric patients than in adult patients since the most determinative signs of the CTX disease are not apparent yet in the childhood. The disease is frequently overlooked in routine practice as the disease presents itself with different clinical combinations both in adults and in children. CTX is potentially a treatable disease; thereby, enhanced awareness is critically important for early diagnosis particularly in children.

Zearalenone (ZEA) and deoxynivalenol (DON) are toxic fungal secondary metabolites, found mainly in contaminated food, that are associated with serious health problems. It is important to identify undesirable toxins and metabolites that may be present in human milk. The aim of this study was to evaluate human milk ZEA and DON levels, total daily intake of ZEA and DON; and their possible relationship with maternal dietary habits.We enrolled 90 lactating mothers who had 7- to 90-day-old babies. A dietary questionnaire was completed by each of the mothers. Human milk samples were obtained from 90 mothers, and human milk ZEA and DON levels were evaluated with the solid-phase direct enzyme immunoassay. The total daily intake (TDI) was calculated for the 63 exclusively breastfed infants.ZEA was detected in all human milk samples; median was 173.8 ng/L (35.7-682 ng/L). The calculated median TDI for ZEA was 33.0 ng/kg body weight (bw) (10.4-120.5 ng/kg) among exclusively breast-fed infants, none of them had a TDI that was above the previously defined threshold levels. Human milk ZEA levels were associated with the maternal consumption of meat, fish, dry fig, dried apricot, flaked red spice and spice. The median DON levels was 3924 ng/L (400-14997 ng/L). The median TDI of DON was 750 ng/kg (240-2774 ng/kg) among exclusively breastfed infants and 36% out of them, the TDI for DON was above the previously defined threshold level. Human milk DON levels were associated with the maternal meat consumption.Our findings are indicative of dietary exposure to mycotoxins during the pregnancy and lactation periods in nursing mothers. Further, the excessive TDI values for DON observed in 36% of the exclusively breastfed infants point to the need for further regulations and recommendations on the dietary habits of pregnant/nursing mothers in order to avoid exposure to potential mycotoxins.