Explanipedia

Clinical and Developmental Outcomes After 50 Years of Newborn Bloodspot Screening for Classical Galactosaemia in the Republic of Ireland Open

D. Pereira, Elizabeth F. Loftus, Charlotte Thompson, Fiona Boyle, Jennifer McNulty , et al. · 2025

Classical Galactosaemia (CG) is an inborn error of carbohydrate metabolism. In untreated neonates, CG leads to a multi‐organ toxicity with life‐threatening symptoms. Newborn Screening for CG began in the Republic of Ireland in 1972. In Ire…

Glycerol intoxication syndrome in young children, following the consumption of slush ice drinks Open

Shona Brothwell, Patricia Fitzsimons, Adam Gerrard, Bernd Schwahn, Christopher Stockdale , et al. · 2025

Introduction Slush ice drinks are commonly available refreshments, aimed at children and young people. Glycerol is used to maintain the slush effect in the absence of a high sugar content. Objective To describe a series of children who bec…

P015: Clinical characterization of classical homocystinuria due to cystathionine-beta synthase deficiency: Results from the ACAPPELLA study Open

Can Fıçıcıoğlu, Melissa Lah, Harvey L. Levy, Hong Li, Clint Lovell , et al. · 2025

A Novel de novo Translocation (derXt(X;13) (q25;q12.11)dn) Manifesting As A Phenotypic Overlap with A Glycosylation Disorder: A Case Report Open

Caroline Hart, Ellen Crushell, Philip Curran, Clare Brenner, Bryan Lynch , et al. · 2025

The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland Open

Arie Fisher, Ritma Boruah, Philip Mayne, Ahmad Monavari, Ellen Crushell , et al. · 2024

MRI in LARS1 deficiency—Spectrum, patterns, and correlation with acute neurological deterioration Open

Nicole Hammann, Dominic Lenz, Alyssa Bianzano, Ralf A. Husain, Eva Forman , et al. · 2024

Leucine aminoacyl tRNA‐synthetase 1 (LARS1)‐deficiency (infantile liver failure syndrome type 1 (ILFS1)) has a multisystemic phenotype including fever‐associated acute liver failure (ALF), chronic neurologic abnormalities, and encephalopat…

Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b Open

Sarah C. Grünert, Matthias Gautschi, Joshua Baker, Monica Boyer, Alberto Burlina , et al. · 2024

Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease Open

Nicole Hammann, Dominic Lenz, Ivo Barić, Ellen Crushell, Carlo Dionisi‐Vici , et al. · 2024

The Metabolic Landscape of Tetrahydrobiopterin Metabolism Disorders in the Republic of Irelanda Fisher1, R Boruah1, Pd Mayne2, Aa Monavari1, E Crushell1, I Knerr1 Open

Arie Fisher, Ritma Boruah, Philip Mayne, Ahmad Monavari, Ellen Crushell , et al. · 2024

Long-Term Cardiorespiratory, Endocrine, Ophthalmic, and Functional Outcomes in Adult Patients with Mucopolysaccharidosis Type I (Hurler Syndrome) Post Haematopoietic Stem Cell Transplantation: The Irish Experience Open

Karolina M. Stępień, Max Treacy, Roulla Katiri, Eileen P. Treacy, Gregory M. Pastores , et al. · 2024

Mucopolysaccharidosis type IH (MPS IH) is caused by homozygous IDUA gene pathogenic variants. This results in deficiency of the enzyme α-L-iduronidase (IDUA), which is necessary for the degradation of glycosaminoglycans (GAGs). This study …

Genetic landscape of pediatric acute liver failure of indeterminate origin Open

Dominic Lenz, Lea D. Schlieben, Masaru Shimura, Alyssa Bianzano, Dmitrii Smirnov , et al. · 2023

Background and Aims: Pediatric acute liver failure (PALF) is a life-threatening condition. In Europe, the main causes are viral infections (12%–16%) and inherited metabolic diseases (14%–28%). Yet, in up to 50% of cases the underlying etio…

Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities Open

Eoghan Dunlea, Ellen Crushell, Melanie Cotter, Nenad Blau, Carlos R. Ferreira · 2023

Many classical inherited metabolic diseases (IMDs) are associated with significant hematological complications such as anemia or thrombosis. While these may not be the prominent presenting feature of these conditions, management of these i…

O06: Insights from the first genetic evaluation of a longitudinal natural history study in classical homocystinuria (HCU)* Open

Tiziano Pramparo, Kimberly A. Chapman, Ying Chen, Can Fıçıcıoğlu, Harvey L. Levy , et al. · 2023

Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy Open

Dina Marek‐Yagel, Emily Stenke, Ben Pode‐Shakked, Cara Dunne, Ellen Crushell , et al. · 2022

Glutaric aciduria type 1: Diagnosis, clinical features and long‐term outcome in a large cohort of 34 Irish patients Open

Lydia Healy, Meabh O’Shea, Jennifer McNulty, Graham S. King, Eilish Twomey , et al. · 2022

Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder that can lead to encephalopathic crises and severe dystonic movement disorders. Adherence to strict dietary restriction, in particular a diet low in lysine, carnitine supplem…

Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience Open

Ritma Boruah, Ahmad Monavari, Tracey Conlon, Nuala Murphy, Andreea Stroiescu , et al. · 2022

Mucolipidosis type II (ML II) is an autosomal recessive lysosomal targeting disorder that may present with features of hyperparathyroidism. The aim of this study was to describe in detail the clinical cases of ML II presenting to a tertiar…

Emergency department utilisation by homeless children in Dublin, Ireland: a retrospective review Open

Niamh O’ Brien, Nuala Quinn, Birgitta Joyce, Helen Bedford, Ellen Crushell · 2022

Introduction Despite increasing prevalence, European family homelessness remains under-researched. Methods A retrospective review was performed of homeless children attending a paediatric emergency department in Dublin, Ireland, from 1 Jan…

Clinical disease characteristics of patients with Niemann-Pick Disease Type C – findings from the International Niemann-Pick Disease Registry (INPDR) Open

Shaun Bolton, Vina Soran, M. Pineda, Jackie Imrie, Paul Gissen , et al. · 2021

Background Niemann-Pick Disease Type C (NPC) is an autosomal recessive rare disease characterised by progressive neurovisceral manifestations. The collection of on-going large-scale NPC clinical data may generate better understandings of t…

NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency Open

Dominic Lenz, Jens Pahl, Fabian Hauck, Seham Alameer, Meena Balasubramanian , et al. · 2021

The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience Open

Caroline Hart, Jenny McNulty, Melanie Cotter, Fatima Al Jasmi, Ellen Crushell , et al. · 2021

Many patients with inborn errors of metabolism, due to early diagnosis and improved management, are living longer with less disease burden. Several are now having families of their own. This poses challenges both for the metabolic control …

Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma Open

Jason Foran, Michael Moore, Ellen Crushell, Ina Knerr, Niamh McSweeney · 2020

A 4‐year‐old girl was referred for reassessment of dyskinetic cerebral palsy. Initial investigations in her country of birth, India, had not yielded a diagnosis. MRI brain in infancy revealed bilateral putamen hyperintensity. She had gener…

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots Open

Federica Conte, Éva Morava, Nurulamin Abu Bakar, Saskia B. Wortmann, Anne Jonge Poerink , et al. · 2020

National Clinical Review on the Impact of COVID-19 Restrictions on Children and Guidance on Reopening of Schools and the Normalisation of Paediatric Healthcare Services in Ireland Open

Ellen Crushell, Julia Murphy, Jacqueline de Lacy · 2020

This National Clinical Review Document was developed in May/June 2020 following extensive consultation with Child Health Professionals with a deep and wide understanding of the needs of the child. The document has been updated in August 20…

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 Open

Dominic Lenz, Desirée E.C. Smith, Ellen Crushell, Ralf A. Husain, Gajja S. Salomons , et al. · 2020

Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis Open

Tracey Conlon, Patricia Fitzsimons, Ingrid Borovickova, Fidelma Kirby, Sinéad Murphy , et al. · 2020

Mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA (HMG Co‐A) synthase (mHS) deficiency is an autosomal recessive disorder of ketone body synthesis which has traditionally been associated with hypoketotic hypoglycemia, hepatomegaly and encephalo…

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients Open

Christian Staufner, Bianca Peters, Matias Wagner, Seham Alameer, Ivo Barić , et al. · 2019

GP223 Creatine deficiency disorders the all-ireland experience Open

Caoimhe Howard, AA Monavari, Ina Knerr, Gregory M. Pastores, Siobhán O’Sullivan , et al. · 2019

Background Cerebral creatine deficiency is caused by rare inherited disorders of either creatine biosynthesis (i.e. guanidinoacetate methyltransferase (GAMT) and arginine:glycine amidinotransferase (AGAT) deficiency), or creatine transport…

GP227 Clinical spectrum of classical galactosaemia associated with friedreich’s ataxia in a paediatric cohort in the republic of ireland – an update Open

Ritma Boruah, Siobhan Siobhan, Orla Franklin, Declan O’ Rourke, Bryan Lynch , et al. · 2019

Despite early diagnosis through Newborn Bloodspot Screening and strict dietary treatment, there are long-term complications of Classical Galactosaemia, including female infertility, osteopenia, and, in some cases, learning disabilities or …

OC67 Career satisfaction among pediatric residents in two european countries (ireland and turkey): a comparative study Open

Busra Nukhet Pehlivanoglu, Sarah Lewis, Nisa Pekcan Bolukbasi, Michael P. Fitzgerald, Özden Aksu Sayman , et al. · 2019

Aim The aim of this study was to conduct a nationwide evaluation of career satisfaction and training experience among residents in pediatrics in both Ireland and Turkey. Patients and methods Questionnaires were designed by the authors and …

P428 An interesting case of a girl with ade novounbalanced translocation causing distinctive metabolic markers Open

Caroline Hart, Brian Lynch, P Curran, Ellen Crushell, Dirk J. Lefeber , et al. · 2019

Background A five year-old girl was referred to the National Centre for Inherited Metabolic Disorders with a background of a neonatal seizure on day three of life in the context of hypoglycaemia and weight loss. She had learning difficulti…

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