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Journal of Inherited Metabolic Disease

Julia Hesse, Carina Braun, Sidney Behringer, Uta Matysiak, Ute Spiekerkoetter, Sara Tucci
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is the most common defect of mitochondrial β-oxidation of long-chain fatty acids. However, the unambiguous diagnosis of true VLCADD patients may be challenging, and a high rate of false positive individuals identified by newborn screening undergo confirmation diagnostics. In this study, we show the outcome of enzyme testing in lymphocytes as a confirmatory tool in newborns identified by screening, and the correlation with molecular sequencing of the ACADVL gene...
September 7, 2018: Journal of Inherited Metabolic Disease
Martina Huemer, Daria Diodato, Diego Martinelli, Giorgia Olivieri, Henk Blom, Florian Gleich, Stefan Kölker, Viktor Kožich, Andrew A Morris, Burkhardt Seifert, D Sean Froese, Matthias R Baumgartner, Carlo Dionisi-Vici, C Alcalde Martin, M Baethmann, D Ballhausen, J Blasco-Alonso, N Boy, M Bueno, R Burgos Peláez, R Cerone, B Chabrol, K A Chapman, M L Couce, E Crushell, J Dalmau Serra, L Diogo, C Ficicioglu, M C García Jimenez, M T García Silva, A M Gaspar, M Gautschi, D González-Lamuño, S Gouveia, S Grünewald, C Hendriksz, M C H Janssen, P Jesina, J Koch, V Konstantopoulou, C Lavigne, A M Lund, E G Martins, S Meavilla Olivas, K Mention, F Mochel, H Mundy, E Murphy, S Paquay, C Pedrón-Giner, M A Ruiz Gómez, S Santra, M Schiff, I V Schwartz, S Scholl-Bürgi, A Servais, A Skouma, C Tran, I Vives Piñera, J Walter, J Weisfeld-Adams
AIM: To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) international web-based registry. RESULTS: This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency n = 50; cobalamin G defect n = 11; cobalamin E defect n = 10; cobalamin D defect n = 5; and cobalamin J defect n = 1) from 47 centres for whom the E-HOD registry includes, as a minimum, data on medical history and enrolment visit...
September 3, 2018: Journal of Inherited Metabolic Disease
A Papandreou, S Rahman, C Fratter, J Ng, E Meyer, L J Carr, M Champion, A Clarke, P Gissen, C Hemingway, N Hussain, S Jayawant, M D King, B J Lynch, L Mewasingh, J Patel, P Prabhakar, V Neergheen, S Pope, S J R Heales, J Poulton, Manju A Kurian
OBJECTIVES: To describe the spectrum of movement disorders and cerebrospinal fluid (CSF) neurotransmitter profiles in paediatric patients with POLG disease. METHODS: We identified children with genetically confirmed POLG disease, in whom CSF neurotransmitter analysis had been undertaken. Clinical data were collected retrospectively. CSF neurotransmitter levels were compared to both standardised age-related reference ranges and to non-POLG patients presenting with status epilepticus...
August 30, 2018: Journal of Inherited Metabolic Disease
F Molema, E H Jacobs, W Onkenhout, G C Schoonderwoerd, J G Langendonk, Monique Williams
BACKGROUND: There is increasing evidence that long-term complications in organic acidemias are caused by impaired mitochondrial metabolism. Currently, there is no specific biomarker to monitor mitochondrial dysfunction in organic acidemias. Serum fibroblast growth factor 21 (FGF-21) is a biomarker for mitochondrial disease and could be a candidate to monitor mitochondrial function in the deleterious course of disease. METHODS: Data of 17 patients with classical organic acidemias (11 propionic acidemia (PA), four methylmalonic acidemia (MMA) and two isovaleric acidemia (IVA) patients) were included...
August 29, 2018: Journal of Inherited Metabolic Disease
Tina Shirzadeh, Amir Hossein Saeidian, Hamideh Bagherian, Shadab Salehpour, Aria Setoodeh, Mohammad Reza Alaei, Leila Youssefian, Ashraf Samavat, Andrew Touati, Mohammad-Sadegh Fallah, Hassan Vahidnezhad, Morteza Karimipoor, Sarah Azadmehr, Marzieh Raeisi, Ameneh Bandehi Sarhadi, Fatemeh Zafarghandi Motlagh, Mojdeh Jamali, Zahra Zeinali, Maryam Abiri, Sirous Zeinali
Phenylketonuria (PKU) is an inborn error of amino acid metabolism caused by mutations in the phenylalanine hydroxylase (PAH) gene, characterized by intellectual deficit and neuropsychiatric complications in untreated patients with estimated frequency of about one in 10,000 to 15,000 live births. PAH deficiency can be detected by neonatal screening in nearly all cases with hyperphenylalaninemia on a heel prick blood spot. Molecular testing of the PAH gene can then be performed in affected family members. Herein, we report molecular study of 635 patients genetically diagnosed with PKU from all ethnicities in Iran...
August 29, 2018: Journal of Inherited Metabolic Disease
Claudio Semplicini, Pascaline Letard, Marie De Antonio, Nadjib Taouagh, Barbara Perniconi, Françoise Bouhour, Andoni Echaniz-Laguna, David Orlikowski, Sabrina Sacconi, Emmanuelle Salort-Campana, Guilhem Solé, Fabien Zagnoli, Dalil Hamroun, Roseline Froissart, Catherine Caillaud, Pascal Laforêt
Pompe disease (PD) is caused by a deficiency of lysosomal acid α-glucosidase resulting from mutations in the GAA gene. The clinical spectrum ranges from a rapidly fatal multisystemic disorder (classic PD, onset < 1 year) to a milder adult onset myopathy. The aims of this study were to characterize the GAA mutations, to establish the disease epidemiology, and to identify potential genotype-phenotype correlations in French late-onset PD patients (onset ≥ 2 years) diagnosed since the 1970s. Data were collected from the two main laboratories involved in PD diagnosis and from the French Pompe registry...
August 28, 2018: Journal of Inherited Metabolic Disease
Dalila Fernandes Gomes, Luciana Guerra Gallo, Betânia Ferreira Leite, Roberta Borges Silva, Everton Nunes da Silva
INTRODUCTION: Mucopolysaccharidosis VI is a rare disease characterized by the arylsulfatase B enzyme deficiency, which is responsible for different clinical manifestations. The treatment consists of enzyme replacement therapy with intravenous administration of galsulfase. OBJECTIVE: Evaluate the effectiveness of the enzyme replacement therapy with galsulfase for the mucopolysaccharidosis VI treatment. METHOD: Systematic review of observational studies...
August 22, 2018: Journal of Inherited Metabolic Disease
Takao Hoshina, Satoshi Nozaki, Takashi Hamazaki, Satoshi Kudo, Yuka Nakatani, Hiroko Kodama, Haruo Shintaku, Yasuyoshi Watanabe
INTRODUCTION: Menkes disease (MD) is an X-linked recessive disorder caused by dysfunction of a copper-transporting protein, leading to severe neurodegeneration in early childhood. We investigated whether a lipophilic copper chelator, disulfiram, could enhance copper absorption from the intestine and transport copper across the blood-brain barrier in MD model mice. METHODS: Wild type and MD model mice were pretreated with disulfiram for 30 min before oral administration of 64 CuCl2 ...
August 21, 2018: Journal of Inherited Metabolic Disease
Nils Waldhüter, Wolfgang Köhler, Philipp G Hemmati, Christian Jehn, Rudolf Peceny, Giang L Vuong, Renate Arnold, Jörn-Sven Kühl
The adult cerebral form of X-linked adrenoleukodystrophy (ACALD), an acute inflammatory demyelinating disease, results in a rapidly progressive neurodegeneration, typically leading to severe disability or death within a few years after onset. We have treated 15 men who had developed ACALD with allogeneic haematopoietic stem cell transplantation (HSCT) from matched donors after myeloablative conditioning with busulfan and cyclophosphamide. All patients engrafted and 11 survived (estimated survival 73 ± 11%), eight with stable cognition and seven of them with stable motor function (estimated event-free survival 36 ± 17%)...
August 21, 2018: Journal of Inherited Metabolic Disease
Àlex Bayés
Neurotransmitter diseases are a well-defined group of metabolic conditions caused, in most instances, by genes specifically expressed in the presynaptic button. Better understanding of presynaptic molecular physiology, both in normal and pathological conditions, should help develop therapeutical strategies. The clinical relevance of the presynapse in inherited metabolic disorders is in glaring contrast with that of the postsynaptic component, which so far does not seem to play a relevant role in these disorders...
August 21, 2018: Journal of Inherited Metabolic Disease
Esmee Oussoren, Irene M J Mathijssen, Margreet Wagenmakers, Rob M Verdijk, Hansje H Bredero-Boelhouwer, Marie-Lise C van Veelen-Vincent, Jan C van der Meijden, Johanna M P van den Hout, George J G Ruijter, Ans T van der Ploeg, Mirjam Langeveld
BACKGROUND: The mucopolysaccharidoses are multisystem lysosomal storage diseases characterized by extensive skeletal deformities, including skull abnormalities. The objective of this study was to determine the incidence of craniosynostosis in the different mucopolysaccharidosis (MPS) types and its clinical consequences. METHODS: In a prospective cohort study spanning 10 years, skull imaging and clinical evaluations were performed in 47 MPS patients (type I, II, VI, and VII)...
August 6, 2018: Journal of Inherited Metabolic Disease
Ari Zimran, Tama Dinur, Shoshana Revel-Vilk, Eric M Akkerman, Laura van Dussen, Carla E M Hollak, Hannah Maayan, Gheona Altarescu, Raul Chertkoff, Mario Maas
Preliminary data suggest a positive effect of taliglucerase alfa on the bone marrow infiltration of Gaucher cells. In this investigator-initiated study, we report the impact of taliglucerase alfa on the bone marrow fat fraction (FF) in 26 patients assessed by quantitative chemical shift imaging (QCSI). Of 15 treatment-naïve patients (median age 48 [range 24-68] years), eight had baseline FF ≤ 0.3, six of those with a FF ≤ 0.23 ('bone at risk'). All significantly improved from a median baseline FF of 0...
July 31, 2018: Journal of Inherited Metabolic Disease
Rochus A Neeleman, Margreet A E M Wagenmakers, Rita H Koole-Lesuis, G Sophie Mijnhout, J H Paul Wilson, Edith C H Friesema, Janneke G Langendonk
Due to a typesetting error the wrong figure 2 was used.
July 27, 2018: Journal of Inherited Metabolic Disease
Curtis R Coughlin, Michael A Swanson, Elaine Spector, Naomi J L Meeks, Kathryn E Kronquist, Mezhgan Aslamy, Michael F Wempe, Clara D M van Karnebeek, Sidney M Gospe, Verena G Aziz, Becky P Tsai, Hanlin Gao, Peter L Nagy, Keith Hyland, Silvy J M van Dooren, Gajja S Salomons, Johan L K Van Hove
Pyridoxine dependent epilepsy (PDE) is a treatable epileptic encephalopathy characterized by a positive response to pharmacologic doses of pyridoxine. Despite seizure control, at least 75% of individuals have intellectual disability and developmental delay. Current treatment paradigms have resulted in improved cognitive outcomes emphasizing the importance of an early diagnosis. As genetic testing is increasingly accepted as first tier testing for epileptic encephalopathies, we aimed to provide a comprehensive overview of ALDH7A1 mutations that cause PDE...
July 24, 2018: Journal of Inherited Metabolic Disease
Elizabeth D Brooks, Dustin J Landau, Jeffrey I Everitt, Talmage T Brown, Kylie M Grady, Lauren Waskowicz, Cameron R Bass, John D'Angelo, Yohannes G Asfaw, Kyha Williams, Priya S Kishnani, Dwight D Koeberl
BACKGROUND: Glycogen storage disease type Ia (GSD Ia) in dogs closely resembles human GSD Ia. Untreated patients with GSD Ia develop complications associated with glucose-6-phosphatase (G6Pase) deficiency. Survival of human patients on intensive nutritional management has improved; however, long-term complications persist including renal failure, nephrolithiasis, hepatocellular adenomas (HCA), and a high risk for hepatocellular carcinoma (HCC). Affected dogs fail to thrive with dietary therapy alone...
July 24, 2018: Journal of Inherited Metabolic Disease
Judit Núñez-Manchón, Alfonsina Ballester-Lopez, Emma Koehorst, Ian Linares-Pardo, Daniëlle Coenen, Ignacio Ara, Carlos Rodriguez-Lopez, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Giuseppe Lucente, Miriam Almendrote, Jaume Coll-Cantí, Guillem Pintos-Morell, Alejandro Santos-Lozano, Joaquin Arenas, Miguel Angel Martín, Mauricio de Castro, Alejandro Lucia, Alfredo Santalla, Gisela Nogales-Gadea
Unfortunately the name of one of the authors was spelled incorrectly in the published original article. The correct name is Alejandro Santos-Lozano. The original article got updated.
July 20, 2018: Journal of Inherited Metabolic Disease
Saskia Koene, Lara van Bon, Enrico Bertini, Cecilia Jimenez-Moreno, Lianne van der Giessen, Imelda de Groot, Robert McFarland, Sumit Parikh, Shamima Rahman, Michelle Wood, Jiri Zeman, Anjo Janssen, Jan Smeitink
Although there are no effective disease-modifying therapies for mitochondrial diseases, an increasing number of trials are being conducted in this rare disease group. The use of sensitive and valid endpoints is essential to test the effectiveness of potential treatments. There is no consensus on which outcome measures to use in children with mitochondrial disease. The aims of this two-day Delphi-based workshop were to (i) define the protocol for an international, multi-centre natural history study in children with mitochondrial myopathy and (ii) to select appropriate outcome measures for a validation study in children with mitochondrial encephalopathy...
July 19, 2018: Journal of Inherited Metabolic Disease
Elisenda Cortès-Saladelafont, Noa Lipstein, Àngels García-Cazorla
The aim of this report is to present a tentative clinical and pathophysiological approach to diseases affecting the neuronal presynaptic terminal, with a major focus on synaptic vesicles (SVs). Diseases are classified depending on which step of the neurobiology of the SV is predominantly affected: (1) biogenesis of vesicle precursors in the neuronal soma; (2) transport along the axon; (3) vesicle cycle at the presynaptic terminal (exocytosis-endocytosis cycle, with the main purpose of neurotransmitter release)...
July 18, 2018: Journal of Inherited Metabolic Disease
Alba Tristán-Noguero, Àngels García-Cazorla
To date, inborn errors of neurotransmitters have been defined based on the classic concept of inborn error of metabolism (IEM), and they include defects in synthesis, catabolism, and transport pathways. However, the omics era is bringing insights into new diseases and is leading to an extended definition of IEM including new categories and mechanisms. Neurotransmission takes place at the synapse, the most specialized tight junction in the brain. The concept of "synaptic metabolism" would point to the specific chemical composition and metabolic functions of the synapse...
July 16, 2018: Journal of Inherited Metabolic Disease
Àngels García-Cazorla, Jean-Marie Saudubray
It has become increasingly evident that inborn errors of metabolism (IEMs) are particularly prevalent as diseases of the nervous system and that a broader, more inclusive definition of IEM is necessary. In fact, as long as biochemistry is involved, any kind of monogenic disease can become an IEM. This new, extended definition includes new categories and mechanisms, and as a general trend will go beyond a single biochemical pathway and/or organelle, and will appear as a connection of multiple crossroads in a system biology approach...
July 16, 2018: Journal of Inherited Metabolic Disease
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