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Inherited metabolic diseases

The inherited metabolic diseases (IMD) section publishes original research (clinical, biochemical, and genetic), well-phenotyped case series, clinical trial outcome reports, and comprehensive reviews of rare inherited disorders of metabolism.

Submissions that increase our understanding or make new observations regarding IMD are particularly welcome. Detailed natural history studies of well-phenotyped case series, and publication of consensus statements on investigation and management of IMD, including collaborations between centres, are encouraged.

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  1. Content type: Review

    5,10-Methylene-tetrahydrofolate reductase (MTHFR) deficiency is a genetic disorder that can occur at any age and can be easily detected by increased homocysteinemia. In adolescence/adult onset forms, the clini...

    Authors: Ana Gales, Marion Masingue, Stephanie Millecamps, Stephane Giraudier, Laure Grosliere, Claude Adam, Claudio Salim, Vincent Navarro and Yann Nadjar

    Citation: Orphanet Journal of Rare Diseases 2018 13:29

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  2. Content type: Research

    Rare diseases are often un- or misdiagnosed for extended periods, resulting in a long diagnostic delay that may significantly add to the burden of the disease. An early diagnosis is particularly essential if a...

    Authors: Gé-Ann Kuiper, Olga L. M. Meijer, Eveline J. Langereis and Frits A. Wijburg

    Citation: Orphanet Journal of Rare Diseases 2018 13:2

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  3. Content type: Research

    The aim of the present study was to establish a non-invasive, fast and robust enzymatic assay to confirm fatty acid oxidation defects (FAOD) in humans following informative newborn-screening or for selective s...

    Authors: Nils Janzen, Alejandro D. Hofmann, Gunnar Schmidt, Anibh M. Das and Sabine Illsinger

    Citation: Orphanet Journal of Rare Diseases 2017 12:187

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  4. Content type: Research

    Mitochondrial disorders are a clinically, biochemically and genetically heterogeneous group of multi-system diseases, with an unmet medical need for treatment. KH176 is an orally bio-available small molecule u...

    Authors: Saskia Koene, Edwin Spaans, Luc Van Bortel, Griet Van Lancker, Brant Delafontaine, Fabio Badilini, Julien Beyrath and Jan Smeitink

    Citation: Orphanet Journal of Rare Diseases 2017 12:163

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  5. Content type: Review

    Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If left untreate...

    Authors: A. M. J. van Wegberg, A. MacDonald, K. Ahring, A. Bélanger-Quintana, N. Blau, A. M. Bosch, A. Burlina, J. Campistol, F. Feillet, M. Giżewska, S. C. Huijbregts, S. Kearney, V. Leuzzi, F. Maillot, A. C. Muntau, M. van Rijn…

    Citation: Orphanet Journal of Rare Diseases 2017 12:162

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  6. Content type: Research

    Lipoprotein lipase deficiency (LPLD) is an autosomal recessive inherited disorder caused by loss-of-function mutations in genes involved in the lipoprotein lipase pathway. It is characterised by chylomicronaem...

    Authors: Sasi Neelamekam, See Kwok, Rachel Malone, Anthony S. Wierzbicki and Handrean Soran

    Citation: Orphanet Journal of Rare Diseases 2017 12:156

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  7. Content type: Research

    We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS). We sought correlation betwe...

    Authors: Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, Antonio F. Martinez Monseny, Ramón Velázquez-Fragua, Laura López, Ana Felipe, Luis G. Gutiérrez-Solana, Alfons Macaya, Belén Pérez-Dueñas and Mercedes Serrano

    Citation: Orphanet Journal of Rare Diseases 2017 12:155

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  8. Content type: Review

    Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal without treatment. With medication (nitisinone) and dietary restrictions outcomes are improved. We conduc...

    Authors: Julia Geppert, Chris Stinton, Karoline Freeman, Hannah Fraser, Aileen Clarke, Samantha Johnson, Paul Sutcliffe and Sian Taylor-Phillips

    Citation: Orphanet Journal of Rare Diseases 2017 12:154

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  9. Content type: Research

    Newborn Screening Connect (NBS Connect) is a web-based self-reported patient registry and resource for individuals and families affected by disorders included in the newborn screening panel. NBS Connect was la...

    Authors: Yetsa Osara, Kathryn Coakley, Aishwarya Devarajan and Rani H. Singh

    Citation: Orphanet Journal of Rare Diseases 2017 12:132

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  10. Content type: Research

    Isolated sulfite oxidase deficiency (ISOD) is a very rare autosomal recessive inherited neurometabolic disease. The most striking postnatal neuroimaging finding is multicystic encephalomalacia, which occurs ra...

    Authors: Hsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren Tsai, Hung-Chieh Chen and I-Chun Lee

    Citation: Orphanet Journal of Rare Diseases 2017 12:115

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  11. Content type: Research

    Urea cycle disorders (UCDs) are a group of rare inherited metabolic disorders. Affected individuals often present with hyperammonemic encephalopathy (HE) and have an increased risk of severe neurologic disease...

    Authors: Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F. Hoffmann, Beate Heinrich, Florian Gleich and Sven F. Garbade

    Citation: Orphanet Journal of Rare Diseases 2017 12:111

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  12. Content type: Review

    Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening ...

    Authors: Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli and Maurizio Scarpa

    Citation: Orphanet Journal of Rare Diseases 2017 12:112

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  13. Content type: Letter to the Editor

    Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These...

    Authors: Marie-Anne Morren, Jaak Jaeken, Gepke Visser, Isabelle Salles, Chris Van Geet, Ilenia Simeoni, Ernest Turro and Kathleen Freson

    Citation: Orphanet Journal of Rare Diseases 2017 12:101

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  14. Content type: Research

    The enzymatic replacement therapy (ERT) availability for Gaucher disease (GD) has changed the landscape of the disease, several countries have screening programs. These actions have promoted the early diagnosi...

    Authors: Marcio Andrade-Campos, Pilar Alfonso, Pilar Irun, Judith Armstrong, Carmen Calvo, Jaime Dalmau, Maria-Rosario Domingo, Jose-Luis Barbera, Horacio Cano, Maria-Angeles Fernandez-Galán, Rafael Franco, Inmaculada Gracia, Miguel Gracia-Antequera, Angela Ibañez, Francisco Lendinez, Marcos Madruga…

    Citation: Orphanet Journal of Rare Diseases 2017 12:84

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  15. Content type: Research

    Without neonatal initiation of treatment, 80–90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic moveme...

    Authors: Nikolas Boy, Jana Heringer, Renate Brackmann, Olaf Bodamer, Angelika Seitz, Stefan Kölker and Inga Harting

    Citation: Orphanet Journal of Rare Diseases 2017 12:77

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  16. Content type: Research

    The PGC-1α/PPAR axis has been proposed as a potential therapeutic target for several metabolic disorders. The aim was to evaluate the efficacy of the pan-PPAR agonist, bezafibrate, in tafazzin knockdown mice (...

    Authors: Yan Huang, Corey Powers, Victoria Moore, Caitlin Schafer, Mindong Ren, Colin K. L. Phoon, Jeanne F. James, Alexander V. Glukhov, Sabzali Javadov, Frédéric M. Vaz, John L. Jefferies, Arnold W. Strauss and Zaza Khuchua

    Citation: Orphanet Journal of Rare Diseases 2017 12:49

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  17. Content type: Review

    Tyrosinemia type 1 is an autosomal recessive disorder of amino acid metabolism. Without treatment, death in childhood is common. Treatment with nitisinone and dietary restrictions are associated with improved ...

    Authors: Chris Stinton, Julia Geppert, Karoline Freeman, Aileen Clarke, Samantha Johnson, Hannah Fraser, Paul Sutcliffe and Sian Taylor-Phillips

    Citation: Orphanet Journal of Rare Diseases 2017 12:48

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  18. Content type: Letter to the Editor

    Propionic acidemia is an inborn error of metabolism caused by deficiency of the mitochondrial enzyme propionyl-CoA carboxylase. Sensorineural deafness and severe hearing loss have been described as long-term c...

    Authors: S. C. Grünert, I. Bodi and K. E. Odening

    Citation: Orphanet Journal of Rare Diseases 2017 12:30

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  19. Content type: Research

    Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe language i...

    Authors: Roberta Battini, M. Grazia Alessandrì, Claudia Casalini, Manuela Casarano, Michela Tosetti and Giovanni Cioni

    Citation: Orphanet Journal of Rare Diseases 2017 12:21

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