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Journal of Inherited Metabolic Disease

Youngmok Lee, Janice Y Chou, David A Weinstein
No abstract text is available yet for this article.
September 27, 2018: Journal of Inherited Metabolic Disease
Elizabeth D Brooks, Priya S Kishnani, Dwight D Koeberl
No abstract text is available yet for this article.
September 25, 2018: Journal of Inherited Metabolic Disease
Faye Wylie
No abstract text is available yet for this article.
September 24, 2018: 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
Vamsi K Mootha, Patrick F Chinnery
No abstract text is available yet for this article.
September 2018: Journal of Inherited Metabolic Disease
Mark J Peters, Gareth A Jones, Simon Eaton, Daisy Wiley, Samiran Ray
No abstract text is available yet for this article.
September 2018: Journal of Inherited Metabolic Disease
Allison B Frederick, Alison M Zinsli, Grace Carlock, Karen Conneely, Judith L Fridovich-Keil
Classic galactosemia (CG) is an inherited metabolic disorder that affects about 1 in 50,000 live births in the United States and many other countries. With the benefit of early detection by newborn screening and rapid dietary restriction of galactose, generally achieved by removing dairy from the diet, most affected infants are spared the acute and potentially lethal symptoms of disease. Despite early detection and life-long dietary intervention, however, most patients grow to experience a constellation of long-term complications that include premature ovarian insufficiency in the vast majority of girls and young women...
September 2018: Journal of Inherited Metabolic Disease
Esmee Oussoren, David van Eerd, Elaine Murphy, Robin Lachmann, Jan C van der Meijden, Lies H Hoefsloot, Rob Verdijk, George J G Ruijter, Mario Maas, Carla E M Hollak, Janneke G Langendonk, Ans T van der Ploeg, Mirjam Langeveld
BACKGROUND: Mucolipidosis type III α/β or γ (MLIII) are rare autosomal recessive diseases, in which reduced activity of the enzyme UDP-N-acetyl glucosamine-1-phosphotransferase (GlcNAc-PTase) leads to intra-lysosomal accumulation of different substrates. Publications on the natural history of MLIII, especially the milder forms, are scarce. This study provides a detailed description of the disease characteristics and its natural course in adult patients with MLIII. METHODS: In this retrospective chart study, the clinical, biochemical and molecular findings in adult patients with a confirmed diagnosis of MLIII from three treatment centres were collected...
September 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
INTRODUCTION: A small proportion of patients with acute intermittent porphyria (AIP) suffer from recurrent porphyric attacks, with a severely diminished quality of life. In this retrospective case-control study, the burden of disease is quantified and compared among three AIP patient subgroups: cases with recurrent attacks, cases with one or occasional attacks and asymptomatic carriers. METHODS: Data from patient records and questionnaires were collected in patients between 1960 and 2016 at the Erasmus Medical Center, Rotterdam, the Netherlands...
September 2018: Journal of Inherited Metabolic Disease
M Haskovic, W J Poot, R J T van Golde, S H Benneheij, E Oussoren, G M W R de Wert, A Krumeich, M Estela Rubio-Gozalbo
Classic galactosemia is a rare inherited disorder of galactose metabolism. Primary ovarian insufficiency (POI) with subfertility affects > 80% of female patients and is an important concern for patients and their parents. Healthcare providers are often consulted for subfertility treatment possibilities. An option brought up by the families is intrafamilial oocyte donation (mother-to-daughter or sister-to-sister). In addition to POI, galactosemia patients can also present varying cognitive and neurological impairments, which may not be fully clear at the time when mother-to-daughter oocyte donation is considered...
September 2018: Journal of Inherited Metabolic Disease
Kiyoshi Hayasaka, Chikahiko Numakura, Mitsunori Yamakawa, Tetsuo Mitsui, Hisayoshi Watanabe, Hiroaki Haga, Masahide Yazaki, Hiromasa Ohira, Yasuo Ochiai, Toshiyuki Tahara, Tamio Nakahara, Noriyo Yamashiki, Takahiro Nakayama, Takashi Kon, Hiroshi Mitsubuchi, Hiroshi Yoshida
Citrin, encoded by SLC25A13, constitutes the malate-aspartate shuttle, the main NADH-shuttle in the liver. Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD) and adult-onset type II citrullinemia (CTLN2). Citrin deficiency is predicted to impair hepatic glycolysis and de novo lipogenesis, resulting in hepatic energy deficit. Secondary decrease in hepatic argininosuccinate synthetase (ASS1) expression has been considered a cause of hyperammonemia in CTLN2. We previously reported that medium-chain triglyceride (MCT) supplement therapy with a low-carbohydrate formula was effective in CTLN2 to prevent a relapse of hyperammonemic encephalopathy...
September 2018: Journal of Inherited Metabolic Disease
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