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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. The mainstay of treating patients with phenylketonuria (PKU) is based on a Phe-restricted diet, restrictive in natural protein combined with Phe-free L-amino acid supplements and low protein foods. This PKU di...

    Authors: María L. Couce, Isidro Vitoria, Luís Aldámiz-Echevarría, Ana Fernández-Marmiesse, Iria Roca, Marta Llarena, Paula Sánchez-Pintos, Rosaura Leis and Alvaro Hermida

    Citation: Orphanet Journal of Rare Diseases 2016 11:123

    Content type: Research

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  2. Niemann-Pick type C (NP-C) is a rare autosomal recessive progressive neurodegenerative disorder caused by mutations in the NP-C 1 or 2 gene. Besides visceral symptoms, presentation in adolescent and adult onse...

    Authors: L. H. Koens, A. Kuiper, M. A. Coenen, J. W. J. Elting, J. J. de Vries, M. Engelen, J. H. T. M. Koelman, F. J. van Spronsen, J. M. Spikman, T. J. de Koning and M. A. J. Tijssen

    Citation: Orphanet Journal of Rare Diseases 2016 11:121

    Content type: Research

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  3. Urea cycle disorders (UCDs) are rare inherited metabolic defects of ammonia detoxification. In about half of patients presenting with a UCD, the first symptoms appear within a few days after birth. These neona...

    Authors: Caroline Unsinn, Anibh Das, Vassili Valayannopoulos, Eva Thimm, Skadi Beblo, Alberto Burlina, Vassiliki Konstantopoulou, Sebene Mayorandan, Pascale de Lonlay, Jörg Rennecke, Jens Derbinski, Georg F. Hoffmann and Johannes Häberle

    Citation: Orphanet Journal of Rare Diseases 2016 11:116

    Content type: Research

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  4. Phenylketonuria is an autosomal recessive inborn error of metabolism which can be prevented by early and continuous treatment. Therefore newborn screening for phenylketonuria has been introduced in many countr...

    Authors: Mirjana Kocova and Violeta Anastasovska

    Citation: Orphanet Journal of Rare Diseases 2016 11:112

    Content type: Letter to the Editor

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    The original article was published in Orphanet Journal of Rare Diseases 2015 10:68

  5. TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a new metabolic disease caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs).

    Authors: Yehani Wedatilake, Rojeen Niazi, Elisa Fassone, Christopher A. Powell, Sarah Pearce, Vincent Plagnol, José W. Saldanha, Robert Kleta, W Kling Chong, Emma Footitt, Philippa B. Mills, Jan-Willem Taanman, Michal Minczuk, Peter T. Clayton and Shamima Rahman

    Citation: Orphanet Journal of Rare Diseases 2016 11:90

    Content type: Research

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  6. Hereditary Tyrosinemia type 1 (HT1) is a rare metabolic disorder caused by a defect in the enzyme Fumarylacetoacetate Hydrolase. Due to this defect, toxic products accumulate which, in turn, cause liver and ki...

    Authors: Willem G. van Ginkel, Rianne Jahja, Stephan C. J. Huijbregts, Anne Daly, Anita MacDonald, Corinne De Laet, David Cassiman, François Eyskens, Irene M. L. W. Körver-Keularts, Philippe J. Goyens, Patrick J. McKiernan and Francjan J. van Spronsen

    Citation: Orphanet Journal of Rare Diseases 2016 11:87

    Content type: Research

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  7. Type I congenital disorders of glycosylation (CDG-I) are mostly complex multisystemic diseases associated with hypoglycosylated serum glycoproteins. A subgroup harbour mutations in genes necessary for the bios...

    Authors: S. Sabry, S. Vuillaumier-Barrot, E. Mintet, M. Fasseu, V. Valayannopoulos, D. Héron, N. Dorison, C. Mignot, N. Seta, I. Chantret, T. Dupré and S. E. H. Moore

    Citation: Orphanet Journal of Rare Diseases 2016 11:84

    Content type: Research

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  8. SIFD (Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay) is a novel form of congenital sideroblastic anemia associated with B-cell immunodeficiency, periodic fevers, a...

    Authors: Urszula Liwak-Muir, Hapsatou Mamady, Turaya Naas, Quinlan Wylie, Skye McBride, Matthew Lines, Jean Michaud, Stephen D. Baird, Pranesh K. Chakraborty and Martin Holcik

    Citation: Orphanet Journal of Rare Diseases 2016 11:79

    Content type: Research

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  9. Patients with infantile-onset Pompe disease (IOPD) can be identified through newborn screening, and the subsequent immediate initiation of enzyme replacement therapy significantly improves the prognosis of the...

    Authors: Steven Shinn-Forng Peng, Wuh-Liang Hwu, Ni-Chung Lee, Fuu-Jen Tsai, Wen-Hui Tsai and Yin-Hsiu Chien

    Citation: Orphanet Journal of Rare Diseases 2016 11:63

    Content type: Research

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  10. Enzyme replacement therapy (ERT) with laronidase (recombinant human α-L-iduronidase, Aldurazyme®) is indicated for non-neurological signs and symptoms of mucopolysaccharidosis type I (MPS I). The approved laro...

    Authors: Dafne Dain Gandelman Horovitz, Angelina X. Acosta, Roberto Giugliani, Anna Hlavatá, Katarína Hlavatá, Michel C. Tchan, Anneliese Lopes Barth, Laercio Cardoso Jr., Emília Katiane Embiruçu de Araújo Leão, Ana Carolina Esposito, Sandra Obikawa Kyosen, Carolina Fischinger Moura De Souza and Ana Maria Martins

    Citation: Orphanet Journal of Rare Diseases 2016 11:51

    Content type: Research

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  11. Fructose-1,6-bisphosphatase deficiency is a rare inborn error of metabolism affecting gluconeogenesis with only sporadic reports on its molecular genetic basis.

    Authors: René Santer, Marcel du Moulin, Tatevik Shahinyan, Inga Vater, Esther Maier, Ania C. Muntau and Beat Steinmann

    Citation: Orphanet Journal of Rare Diseases 2016 11:44

    Content type: Research

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  12. Cerebrotendinous xanthomatosis (CTX) is among the few inherited neurometabolic disorders amenable to specific treatment. It is easily diagnosed using plasma cholestanol. We wished to delineate the natural hist...

    Authors: Bertrand Degos, Yann Nadjar, Maria del Mar Amador, Foudil Lamari, Frédéric Sedel, Emmanuel Roze, Philippe Couvert and Fanny Mochel

    Citation: Orphanet Journal of Rare Diseases 2016 11:41

    Content type: Letter to the Editor

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  13. Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia arising partly from s...

    Authors: Vassili Valayannopoulos, Julien Baruteau, Maria Bueno Delgado, Aline Cano, Maria L. Couce, Mireia Del Toro, Maria Alice Donati, Angeles Garcia-Cazorla, David Gil-Ortega, Pedro Gomez-de Quero, Nathalie Guffon, Floris C. Hofstede, Sema Kalkan-Ucar, Mahmut Coker, Rosa Lama-More, Mercedes Martinez-Pardo Casanova…

    Citation: Orphanet Journal of Rare Diseases 2016 11:32

    Content type: Research

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  14. Specialized adult care of phenylketonuria (PKU) patients is of increasing importance. Adult outpatient clinics for inherited errors of metabolism can help to achieve this task, but experience is limited. Ten y...

    Authors: Ulrike Mütze, Alena Gerlinde Thiele, Christoph Baerwald, Uta Ceglarek, Wieland Kiess and Skadi Beblo

    Citation: Orphanet Journal of Rare Diseases 2016 11:27

    Content type: Research

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  15. There is no consensus in the literature regarding the impact of false positive newborn screening results on early health care utilization patterns. We evaluated the impact of false positive newborn screening r...

    Authors: Maria D. Karaceper, Pranesh Chakraborty, Doug Coyle, Kumanan Wilson, Jonathan B. Kronick, Steven Hawken, Christine Davies, Marni Brownell, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Anne-Marie Laberge, Aizeddin Mhanni, Fiona A. Miller…

    Citation: Orphanet Journal of Rare Diseases 2016 11:12

    Content type: Research

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  16. It is unknown whether the neonatal tetrahydrobiopterin (BH4) loading test is adequate to diagnose long-term BH4 responsiveness in PKU. Therefore we compared the predictive value of the neonatal (test I) versus...

    Authors: Karen Anjema, Floris C. Hofstede, Annet M. Bosch, M. Estela Rubio–Gozalbo, Maaike C. de Vries, Carolien C.A. Boelen, Margreet van Rijn and Francjan J. van Spronsen

    Citation: Orphanet Journal of Rare Diseases 2016 11:10

    Content type: Research

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  17. Late-onset Pompe disease (LOPD) is a rare treatable lysosomal storage disorder characterized by progressive lysosomal glycogen accumulation and muscle weakness, with often a limb-girdle pattern. Despite publis...

    Authors: Sébastien Lévesque, Christiane Auray-Blais, Elaine Gravel, Michel Boutin, Laura Dempsey-Nunez, Pierre-Etienne Jacques, Sébastien Chenier, Sandrine Larue, Marie-France Rioux, Walla Al-Hertani, Amelie Nadeau, Jean Mathieu, Bruno Maranda, Valérie Désilets, Paula J. Waters, Joan Keutzer…

    Citation: Orphanet Journal of Rare Diseases 2016 11:8

    Content type: Research

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  18. Inherited neurometabolic disorders (iNMDs) represent a group of almost seven hundred rare diseases whose common manifestations are clinical neurologic or cognitive symptoms that can appear at any time, in the ...

    Authors: Linda Cassis, Elisenda Cortès-Saladelafont, Marta Molero-Luis, Delia Yubero, Maria Julieta González, Aida Ormazábal, Carme Fons, Cristina Jou, Cristina Sierra, Esperanza Castejon Ponce, Federico Ramos, Judith Armstrong, M. Mar O’Callaghan, Mercedes Casado, Raquel Montero, Silvia Meavilla-Olivas…

    Citation: Orphanet Journal of Rare Diseases 2015 10:164

    Content type: Research

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    The Erratum to this article has been published in Orphanet Journal of Rare Diseases 2016 11:147

  19. Special low protein foods (SLPF) are essential in the nutritional management of patients with phenylketonuria (PKU). The study objectives were to: 1) identify the number of SLPF available for use in eight Euro...

    Authors: Maria João Pena, Manuela Ferreira Almeida, Esther van Dam, Kirsten Ahring, Amaya Bélanger-Quintana, Katharina Dokoupil, Hulya Gokmen-Ozel, Anna Maria Lammardo, Anita MacDonald, Martine Robert and Júlio César Rocha

    Citation: Orphanet Journal of Rare Diseases 2015 10:162

    Content type: Research

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  20. Niemann-Pick Type C disease (NPC), is an autosomal recessive neurovisceral disorder of lipid metabolism. One characteristic feature of NPC is a vertical supranuclear gaze palsy particularly affecting saccades....

    Authors: Larry A. Abel, Mark Walterfang, Matthew J. Stainer, Elizabeth A. Bowman and Dennis Velakoulis

    Citation: Orphanet Journal of Rare Diseases 2015 10:160

    Content type: Research

    Published on:

  21. Mutations in Phenylalanine Hydroxylase (PAH) gene cause phenylketonuria. Sapropterin (BH4), the enzyme cofactor, is an important therapeutical strategy in phenylketonuria. However, PAH is a highly polymorphic gen...

    Authors: Elise Jeannesson-Thivisol, François Feillet, Céline Chéry, Pascal Perrin, Shyue-Fang Battaglia-Hsu, Bernard Herbeth, Aline Cano, Magalie Barth, Alain Fouilhoux, Karine Mention, François Labarthe, Jean-Baptiste Arnoux, François Maillot, Catherine Lenaerts, Cécile Dumesnil, Kathy Wagner…

    Citation: Orphanet Journal of Rare Diseases 2015 10:158

    Content type: Research

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  22. Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which ca...

    Authors: Femke C. C. Klouwer, Kevin Berendse, Sacha Ferdinandusse, Ronald J. A. Wanders, Marc Engelen and Bwee Tien Poll-The

    Citation: Orphanet Journal of Rare Diseases 2015 10:151

    Content type: Review

    Published on:

  23. Fucosidosis results from lack of α-L-fucosidase activity, with accumulation of fucose-linked substrates in the nervous system and viscera leading to progressive motor and mental deterioration, and death. The n...

    Authors: Gauthami Sudhamayee Kondagari, Jessica Louise Fletcher, Rachel Cruz, Peter Williamson, John J. Hopwood and Rosanne Maree Taylor

    Citation: Orphanet Journal of Rare Diseases 2015 10:143

    Content type: Research

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  24. Mucopolysaccharidosis type II (MPS II, Hunter syndrome), is caused by a deficiency of iduronate-2-sulfatase (IDS). Despite the therapeutic effect of intravenous enzyme replacement therapy (ERT), the central ne...

    Authors: Sung Yoon Cho, Jeehun Lee, Ah-Ra Ko, Min Jung Kwak, Sujin Kim, Young Bae Sohn, Sung Won Park and Dong-Kyu Jin

    Citation: Orphanet Journal of Rare Diseases 2015 10:141

    Content type: Research

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  25. Studies in orphan diseases are, by nature, confronted with small patient populations, meaning that randomized controlled trials will have limited statistical power. In order to estimate the effectiveness of tr...

    Authors: Tim A. Kanters, W. Ken Redekop, Maureen P.M.H. Rutten-Van Mölken, Michelle E. Kruijshaar, Deniz Güngör, Ans T. van der Ploeg and Leona Hakkaart

    Citation: Orphanet Journal of Rare Diseases 2015 10:112

    Content type: Research

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  26. In GSDIa, glucose 6-phosphate (G6P) accumulates in the endoplasmic reticulum (ER); in GSDIb, G6P levels are reduced in ER. G6P availability directly modulates the activity of 11β-hydroxysteroid dehydrogenase t...

    Authors: Daniela Melis, Alessandro Rossi, Rosario Pivonello, Mariacarolina Salerno, Francesca Balivo, Simona Spadarella, Giovanna Muscogiuri, Roberto Della Casa, Pietro Formisano, Generoso Andria, Annamaria Colao and Giancarlo Parenti

    Citation: Orphanet Journal of Rare Diseases 2015 10:91

    Content type: Research

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  27. Pompe disease is a proximal myopathy. We investigated whether exercise training is a safe and useful adjuvant therapy for adult Pompe patients, receiving enzyme replacement therapy.

    Authors: Linda E. M. van den Berg, Marein M. Favejee, Stephan C. A. Wens, Michelle E. Kruijshaar, Stephan F. E. Praet, Arnold J. J. Reuser, Johannes B. J. Bussmann, Pieter A. van Doorn and Ans T. van der Ploeg

    Citation: Orphanet Journal of Rare Diseases 2015 10:87

    Content type: Research

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  28. Current therapies for the Lesch-Nyhan Syndrome (OMIM: 300322) are off-label and experimental, often leading to inconsistent outcomes. We here report the effects of an intrathecal baclofen therapy, carried out ...

    Authors: Marco Pozzi, Luigi Piccinini, Maurizio Gallo, Francesco Motta, Sonia Radice and Emilio Clementi

    Citation: Orphanet Journal of Rare Diseases 2014 9:208

    Content type: Letter to the Editor

    Published on:

  29. PMM2-CDG (formerly known as CDG Ia) a deficiency in phosphomannomutase, is the most frequent congenital disorder of glycosylation. The phenotype encompasses a wide range of neurological and non-neurological ma...

    Authors: Marie-Lorraine Monin, Cyril Mignot, Pascale De Lonlay, Bénédicte Héron, Alice Masurel, Michèle Mathieu-Dramard, Catherine Lenaerts, Christel Thauvin, Marion Gérard, Emmanuel Roze, Aurélia Jacquette, Perrine Charles, Claire de Baracé, Valérie Drouin-Garraud, Philippe Khau Van Kien, Valérie Cormier-Daire…

    Citation: Orphanet Journal of Rare Diseases 2014 9:207

    Content type: Research

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  30. Mutations affecting RNA splicing represent more than 20% of the mutant alleles in Sanfilippo syndrome type C, a rare lysosomal storage disorder that causes severe neurodegeneration. Many of these mutations are...

    Authors: Liliana Matos, Isaac Canals, Larbi Dridi, Yoo Choi, Maria João Prata, Peter Jordan, Lourdes R Desviat, Belén Pérez, Alexey V Pshezhetsky, Daniel Grinberg, Sandra Alves and Lluïsa Vilageliu

    Citation: Orphanet Journal of Rare Diseases 2014 9:180

    Content type: Research

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  31. Inborn errors of metabolism (IEMs) have been anecdotally reported in the literature as presenting with features of cerebral palsy (CP) or misdiagnosed as ‘atypical CP’. A significant proportion is amenable to ...

    Authors: Emma L Leach, Michael Shevell, Kristin Bowden, Sylvia Stockler-Ipsiroglu and Clara DM van Karnebeek

    Citation: Orphanet Journal of Rare Diseases 2014 9:197

    Content type: Research

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  32. Morquio A syndrome is an autosomal recessive lysosomal storage disease often resulting in life-threatening complications. Early recognition and proficient diagnosis is imperative to facilitate prompt treatment...

    Authors: Kaustuv Bhattacharya, Shanti Balasubramaniam, Yew Sing Choy, Michael Fietz, Antony Fu, Dong Kyu Jin, Ok-Hwa Kim, Motomichi Kosuga, Young Hee Kwun, Anita Inwood, Hsiang-Yu Lin, Jim McGill, Nancy J Mendelsohn, Torayuki Okuyama, Hasri Samion, Adeline Tan…

    Citation: Orphanet Journal of Rare Diseases 2014 9:192

    Content type: Research

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  33. Advances in the diagnosis and treatment of urea cycle disorders (UCDs) have led to a higher survival rate. The purpose of this study is to describe the characteristics of patients with urea cycle disorders in ...

    Authors: Elena Martín-Hernández, Luis Aldámiz-Echevarría, Esperanza Castejón-Ponce, Consuelo Pedrón-Giner, María Luz Couce, Juliana Serrano-Nieto, Guillem Pintos-Morell, Amaya Bélanger-Quintana, Mercedes Martínez-Pardo, María Teresa García-Silva, Pilar Quijada-Fraile, Isidro Vitoria-Miñana, Jaime Dalmau, Rosa A Lama-More, María Amor Bueno-Delgado, Mirella del Toro-Riera…

    Citation: Orphanet Journal of Rare Diseases 2014 9:187

    Content type: Research

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  34. Frequent feeds with carbohydrate-rich meals or continuous enteral feeding has been the therapy of choice in glycogen storage disease (Glycogenosis) type III. Recent guidelines on diagnosis and management recom...

    Authors: Sebene Mayorandan, Uta Meyer, Hans Hartmann and Anibh Martin Das

    Citation: Orphanet Journal of Rare Diseases 2014 9:196

    Content type: Research

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  35. Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene; this gene codes for the mitochondrial enzyme sterol 27-hydroxylase, wh...

    Authors: Shuke Nie, Guiqin Chen, Xuebing Cao and Yunjian Zhang

    Citation: Orphanet Journal of Rare Diseases 2014 9:179

    Content type: Review

    Published on:

  36. Fabry disease (FD) is a multisystemic disorder with typical neurological manifestations such as stroke and small fiber neuropathy (SFN), caused by mutations of the alpha-galactosidase A (GLA) gene. We analyzed 15...

    Authors: Michael Schelleckes, Malte Lenders, Katrin Guske, Boris Schmitz, Christian Tanislav, Sonja Ständer, Dieter Metze, Istvan Katona, Joachim Weis, Stefan-Martin Brand, Thomas Duning and Eva Brand

    Citation: Orphanet Journal of Rare Diseases 2014 9:178

    Content type: Research

    Published on:

  37. Niemann-Pick disease type C (NP-C) is a rare autosomal recessive disorder of lysosomal cholesterol transport. The objective of this retrospective cohort study was to critically analyze the onset and time cours...

    Authors: Lucia Abela, Barbara Plecko, Antonella Palla, Patricie Burda, Jean-Marc Nuoffer, Diana Ballhausen and Marianne Rohrbach

    Citation: Orphanet Journal of Rare Diseases 2014 9:176

    Content type: Research

    Published on:

  38. Signs and symptoms of the X-linked disorder, Fabry disease (FD), can occur early during childhood with heterogeneous clinical manifestations including potential cardiac and renal dysfunction. Several studies s...

    Authors: Raphael Schiffmann, Gregory M Pastores, Yeong-Hau H Lien, Victoria Castaneda, Peter Chang, Rick Martin and Anna Wijatyk

    Citation: Orphanet Journal of Rare Diseases 2014 9:169

    Content type: Research

    Published on:

  39. Nephropathic cystinosis is an inherited autosomal recessive lysosomal storage disorder characterized by the pathological accumulation and crystallization of cystine inside different cell types. WBC cystine det...

    Authors: Mohamed A Elmonem, Samuel H Makar, Lambertus van den Heuvel, Hanan Abdelaziz, Safaa M Abdelrahman, Xavier Bossuyt, Mirian C Janssen, Elisabeth AM Cornelissen, Dirk J Lefeber, Leo AB Joosten, Marwa M Nabhan, Fanny O Arcolino, Fayza A Hassan, Héloïse P Gaide Chevronnay, Neveen A Soliman and Elena Levtchenko

    Citation: Orphanet Journal of Rare Diseases 2014 9:155

    Content type: Research

    Published on:

  40. The cblC defect is a rare inborn error of intracellular cobalamin metabolism. Biochemical hallmarks are elevated homocysteine and low methionine in plasma accompanied by methylmalonic aciduria. Due to the hete...

    Authors: Martina Huemer, Sabine Scholl-Bürgi, Karine Hadaya, Ilse Kern, Ronny Beer, Klaus Seppi, Brian Fowler, Matthias R Baumgartner and Daniela Karall

    Citation: Orphanet Journal of Rare Diseases 2014 9:161

    Content type: Research

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