A5085840094- Metabolism and Genetic Disorders
- Glycogen Storage Diseases and Myoclonus
- Diet and metabolism studies
- Folate and B Vitamins Research
- Mitochondrial Function and Pathology
- Neurological disorders and treatments
- Lysosomal Storage Disorders Research
- Genetic Neurodegenerative Diseases
- Amino Acid Enzymes and Metabolism
- Carbohydrate Chemistry and Synthesis
- Muscle metabolism and nutrition
- Biochemical and Molecular Research
- Neurogenetic and Muscular Disorders Research
- Neonatal Health and Biochemistry
- Endoplasmic Reticulum Stress and Disease
- Child Nutrition and Feeding Issues
- Pharmaceutical studies and practices
- Genomics and Rare Diseases
- Genetic Syndromes and Imprinting
- Metabolism, Diabetes, and Cancer
- Protein Tyrosine Phosphatases
- Autoimmune Neurological Disorders and Treatments
- Parkinson's Disease and Spinal Disorders
University College London Hospitals NHS Foundation Trust
2019-2025
University College London
2014-2025
National Hospital for Neurology and Neurosurgery
2011-2024
Background: Special low-protein foods are essential in the dietary treatment of phenylketonuria (PKU). In UK, these available on prescription through General Practitioners (GPs) and distributed via nutritional home delivery companies or pharmacies. Methods: A 58-item online non-validated semi-structured questionnaire was emailed to British Inherited Metabolic Disease Group (BIMDG) dietitians dietetic support workers (DSW)/administrators working PKU ascertain main system issues errors with...
Patients with phenylketonuria (PKU) are reliant on special low protein foods (SLPFs) as part of their dietary treatment. In England, several issues regarding the accessibility SLPFs through national prescribing system have been highlighted. Therefore, patterns and expenditure all available prescription in England (n = 142) were examined. Their costs comparison to regular protein-containing 182) 'free-from' products 135) also analysed. Similar grouped into subgroups 40). The number units...
There is an increasing number of adults and elderly patients with phenylketonuria (PKU) who are either early, late treated, or untreated. The principal treatment a phenylalanine-restricted diet. no established UK training for dietitians work within the specialty Inherited Metabolic Disorders (IMDs), including PKU. To address this, group experienced specializing in IMDs created standard operating procedure (SOP) on dietetic management PKU to promote equity care IMD services support service...
McArdle disease is the most common of glycogen storage diseases. Onset symptoms usually in childhood with muscle pain and restricted exercise capacity. Signs are often ignored children or put down to ‘growing pains’ thus diagnosis delayed. Misdiagnosis not uncommon because several other conditions such as muscular dystrophy channelopathies can manifest similar symptoms. A simple test performed clinic however help identify patients by revealing second wind phenomenon which pathognomonic...
A low amino acid (AA)/protein diet is the principal treatment for many inherited disorders (IMDs). Due to their AA content, plant foods constitute an essential part of therapy. However, data on composition are limited, which leads estimation intake from protein content rather than accurate calculation true intake. This study describes a total 73 (fruits, n = 12; vegetables, 51; and other foods, 10), with analysis commissioned by UK National Society Phenylketonuria (NSPKU) over 15 years. For...
Abstract Background Hypoglycaemia is the primary manifestation of all hepatic types glycogen storage disease (GSD). In 2008, Glycosade ® , an extended-release waxy maize cornstarch, was reported as alternative to uncooked cornstarch (UCCS) which could prolong duration fasting in GSD population. To date, there has been minimal published experience (a) young children, (b) ketotic forms GSD, and (c) with daytime dosing. The Glyde study created a prospective, global initiative test efficacy...
In phenylketonuria (PKU), variable dietary advice provided by health professionals and social media leads to uncertainty for patients/caregivers reliant on accurate, evidence based information. Over four years, 112 consensus statements concerning the allocation of foods in a low phenylalanine diet PKU were developed British Inherited Metabolic Disease Dietitians Group (BIMDG-DG) from 34 treatment centres, utilising 10 rounds Delphi consultation gain majority (≥75%) decision. A mean 29 UK...
In the treatment of phenylketonuria (PKU), there was disparity between UK dietitians regarding interpretation how different foods should be allocated in a low phenylalanine diet (allowed without measurement, not allowed, or allowed as part exchanges). This led to variable advice being given patients.
McArdle disease is caused by myophosphorylase deficiency leading to blocked glycogenolysis in skeletal muscle. Consequently, individuals with have intolerance physical activity, muscle fatigue, and pain. These symptoms vary according the availability of alternative fuels for contraction. In theory, a modified ketogenic diet (mKD) can provide form ketone bodies potentially boost fat oxidation.This randomized, single-blind, placebo-controlled, cross-over study aimed investigate if mKD improves...
Introduction: There is little practical guidance about suitable food choices for higher natural protein tolerances in patients with phenylketonuria (PKU). This particularly important to consider the introduction of adjunct pharmaceutical treatments that may improve tolerance. Aim: To develop a set guidelines foods into diets PKU who tolerate >10 g/day protein. Methods: In January 2022, 26-item group questionnaire, listing range containing from 5 >20 g/100 g, was sent all British...
(1) Background: Poor palatability, large volume, and lack of variety some liquid powdered protein substitutes (PSs) for patients with phenylketonuria (PKU) tyrosinemia (TYR) can result in poor adherence. This study aimed to evaluate a new unflavoured, GMP-based PS designed be mixed into drinks, foods, or other PSs, PKU TYR. (2) Methods: Paediatric adult community-based were recruited from eight metabolic centres prescribed ≥1 sachet/day (10 g equivalent (PE)) the Mix-In-style over 28 days....
In the UK, different dietary systems are used to calculate protein or tyrosine/phenylalanine intake in management of hereditary tyrosinaemia, HTI, II and III (HT), with no systematic evidence comparing merits inadequacies each. This study aimed examine current UK practices all HTs and, using Delphi methodology, reach consensus agreement about best system. Over 12 months, five meetings were held paediatric adult dietitians working inherited metabolic disorders (IMDs) managing HTs. Eleven...
(1) Background: Good adherence to a Phe-restricted diet supplemented with an adequate amount of protein substitute (PS) is important for good clinical outcomes in PKU. Glycomacropeptide (cGMP)-PSs are innovative, palatable alternatives amino acid-based PSs (AA-PS). This study aimed evaluate new cGMP-PS liquid and powder formats (2) Methods: Children adults PKU recruited from eight centres were prescribed at least one serving/day 7–28 days. Adherence, acceptability, gastrointestinal tolerance...